Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Hereditary musculoskeletal diseases

Hereditary musculoskeletal disease includes both functional and morphological alterations of the skeletal system.

Systematic

Hereditary diseases
Hereditary broncho-pulmonary disease
Hereditary cardiac disease
Hereditary dermatological disorders
Hereditary diseases of the hematopoetic system and coagulopathies
Hereditary endocrinological diseases
Hereditary immunological disorders
Hereditary kidney diseases
Hereditary liver disease
Hereditary malformations
Hereditary metabolic diseases
Hereditary musculoskeletal diseases
Hereditary bone disease
Acro-renal-ocular syndrome
SALL4
Albright hereditary osteodystrophy
GNAS
Bone dysplasia
Achondroplasia
FGFR3
Achondroplasia-SCID syndrome
Acrocapitofemoral dysplasia
IHH
Antley-Bixler syndrome 1
POR
Antley-Bixler syndrome 2
FGFR2
Apert syndrome
FGFR2
Cherubism
SH3BP2
Chondrodysplasia of Blomstrand type
PTH1R
Chondrodysplasia, Grebe type
Acromesomelic dysplasia, Demirhan type
BMPR1B
Acromesomelic dysplasia, Grebe type
GDF5
Acromesomelic dysplasia, Hunter-Thompson type
GDF5
GDF5
Crouzon syndrome
FGFR3
Eiken syndrome
PTH1R
Failure of tooth eruption
PTH1R
McCune-Albright syndrom
GNAS
Metaphyseal chondrodysplasia of Murk Jansen type
PTH1R
Muenke syndrome
FGFR3
Osteofibrous dysplasia
MET
Osteopathia striata with cranial sclerosis
AMER1
Schimke Immunoosseous dysplasia
SMARCAL1
Thanatophoric dysplasia 1
FGFR3
Thanatophoric dysplasia 2
FGFR3
Ehlers-Danlos syndrome due to tenascin-X deficiency
TNXB
Familial expansile osteolysis
TNFRSF11A
IVIC syndrome
SALL4
Juvenile Paget disease
TNFRSF11A
Kabuki syndrome
KDM6A
Kabuki syndrome 1
KMT2D
Kabuki syndrome 2
KDM6A
Metabolic bone disease
Hereditary Rickets
Hypophosphatasia
Adult hypophosphatasia
ALPL
Childhood hypophosphatasia
ALPL
Infantile hypophosphatasia
ALPL
Odontohypophosphatasia
ALPL
Hypophosphatemic bone and kindney disease
Disorders of the renal phosphate transporters
Hypophosphatemic rickets with hypercalciuria
SLC34A3
Idiopathic basal ganglia calcification 1
SLC20A2
Nephrolithiasis/osteoporosis, hypophosphatemic, 1
SLC34A1
Nephrolithiasis/osteoporosis, hypophosphatemic, 2
SLC9A3R1
FGF23-induced hypophosphatemic rickets
Autosomal dominant hypophosphatemic rickets
FGF23
Autosomal recessive hypophosphatemic rickets type 1
DMP1
Autosomal recessive hypophosphatemic rickets type 2
ENPP1
X-linked dominant hypophosphatemic rickets
PHEX
Fanconi-type hypophosphatemic rickets
Nephrolithiasis/osteoporosis, hypophosphatemic, 1
SLC34A1
X-linked recessive hypophosphatemic rickets
CLCN5
OCRL
Hypophosphatemic rickets with hyperparathyroidism
KL
Osteoglophonic dysplasia
FGFR1
Raine syndrome
FAM20C
X-linked dominant hypophosphatemic rickets
PHEX
Vitamin D hydroxylation-deficient rickets type 1A
CYP27B1
Vitamin D hydroxylation-deficient rickets type 1B
CYP2R1
Vitamin D-dependent rickets, type 2A
VDR
Vitamin D-dependent rickets, type 2B
RXRA
Inherited human diseases of heterotopic bone formation
Fibrodysplasia ossificans progressiva
ACVR1
Hyperphosphatemic familial tumoral calcinosis
FGF23
GALNT3
KL
Progressive osseous heteroplasia
GNAS
Osteopetrosis
Autosomal dominant osteopetrosis 1
LRP5
Autosomal dominant osteopetrosis 2
CLCN7
Autosomal recessive osteopetrosis 4
CLCN7
Autosomal recessive osteopetrosis 7
TNFRSF11A
Combined renal tubular acidosis 3 with osteopetrosis 3
CA2
Osteoporosis/renal Osteodystrophy
CASR
LRP5
RXRA
VDR
Pseudohypoparathyroidism
Albright hereditary osteodystrophy
GNAS
Pseudohypoparathyroidism type IB
GNAS
STX16
Osteoarthritis susceptibility 5
GDF5
Hereditary muscle diseases
Inclusion body myopathy 2
GNE
Nonaka myopathy
GNE
Polyglucosan body myopathy type 1
RBCK1
Inborn skeletal malformations
Al-Gazali-Bakalinova syndrome
KIF7
Brachydactyly
Brachydactyly type A1
Brachydactyly type A1, A
IHH
Brachydactyly type A1, B
Brachydactyly type A1, C
GDF5
Brachydactyly type A1, D
BMPR1B
Brachydactyly type A2
BMPR1B
Brachydactyly type A3
Brachydactyly type A4
Brachydactyly type B1
ROR2
Brachydactyly type B2
NOG
Brachydactyly type C
GDF5
Brachydactyly type D
HOXD13
Brachydactyly type E1
HOXD13
Brachydactyly type E2
PTHLH
Brachydactyly types B and E combined
Brachydactyly-syndactyly
HOXD13
Fibular aplasia-complex brachydactyly syndrome
GDF5
Branchio-oculo-facial syndrome
TFAP2A
Congenital contractural arachnodactyly
FBN2
Ehlers-Danlos syndrome due to tenascin-X deficiency
TNXB
Hydrolethalus 2
KIF7
Lacrimoauriculodentodigital syndrome
FGF10
Multiple synostoses syndrome
Multiple synostoses syndrome 1
NOG
Multiple synostoses syndrome 2
GDF5
Multiple synostoses syndrome 3
FGF9
NOG
Multiple synostoses syndrome 3
FGF9
Orofacial cleft 11
BMP4
Orofaciodigital syndrome
Orofaciodigital syndrome 01
OFD1
Orofaciodigital syndrome 04
TCTN3
Orofaciodigital syndrome 06
CPLANE1
Orofaciodigital syndrome 16
TMEM107
Orofaciodigital syndrome 9
Periodontal Ehlers-Danlos syndrome
C1R
C1S
Proximal symphalangism
Proximal symphalangism 1A
NOG
Proximal symphalangism 1B
GDF5
Renal tubular acidosis with arthrogryposis
Arthrogryposis, renal dysfunction, and cholestasis 1
VPS33B
Arthrogryposis, renal dysfunction, and cholestasis 2
VIPAS39
Simpson-Golabi-Behmel syndrome
Simpson-Golabi-Behmel syndrome 1
GPC3
Simpson-Golabi-Behmel syndrome 2
OFD1
Stapes ankylosis with broad thumbs and toes
NOG
Syndactyly type 5
HOXD13
Synpolydactyly type 1
HOXD13
Tarsal-carpal coalition syndrome
NOG
Tatton-Brown-Rahman syndrome
DNMT3A
Townes-Brocks syndrome
SALL1
Townes-Brocks branchiootorenal-like syndrome
SALL1
Townes-Brocks syndrome 1
SALL1
Townes-Brocks syndrome 2
DACT1
Trigonocephaly 2
FREM1
Van Maldergem syndrome 2
FAT4
Short stature
Acrocapitofemoral dysplasia
IHH
Brachydactyly
Brachydactyly type A1
Brachydactyly type A1, A
IHH
Brachydactyly type A1, B
Brachydactyly type A1, C
GDF5
Brachydactyly type A1, D
BMPR1B
Brachydactyly type A2
BMPR1B
Brachydactyly type A3
Brachydactyly type A4
Brachydactyly type B1
ROR2
Brachydactyly type B2
NOG
Brachydactyly type C
GDF5
Brachydactyly type D
HOXD13
Brachydactyly type E1
HOXD13
Brachydactyly type E2
PTHLH
Brachydactyly types B and E combined
Brachydactyly-syndactyly
HOXD13
Fibular aplasia-complex brachydactyly syndrome
GDF5
Short stature, SHOX-linked
Langer mesomelic dysplasia
SHOX
Leri-Weill dyschondrosteosis
SHOX
X-linked familial short stature
SHOX
Y-linked familial short stature
SHOX
Sotos syndrome 1
NSD1
Syndromic growth retardation
Growth retardation with developmental delay and facial dysmorphism
FTO
Short stature, developmental delay, and congenital heart defects
TKT
Hereditary neurological disorders
Hereditary ocular disease and visual impairment
Hereditary otorhinolaryngological disorders
Hereditary pancreatic disease
Hereditary susceptibility to infections
Hereditary tumors
Hereditary vascular disease
Hypertension

References:

1.

None (2015) Skeletal Dysplasias: An Overview.

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2.

Huegel J et al. (2013) Heparan sulfate in skeletal development, growth, and pathology: the case of hereditary multiple exostoses.

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3.

Nishimura G et al. (2012) TRPV4-associated skeletal dysplasias.

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Update: April 29, 2019