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Osteogenesis imperfecta type 4
6 OMIM references -
7 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Focal dermal hypoplasia
1 OMIM reference -
1 associated gene
70 signs/symptoms
Osteogenesis imperfecta type 4
Focal dermal hypoplasia

COL1A1
(UniProt - OMIM)
 PORCN
(UniProt - OMIM)
COL1A2
(UniProt - OMIM)
CRTAP
(UniProt - OMIM)
PPIB
(UniProt - OMIM)
SP7
(UniProt - OMIM)
TMEM38B
(UniProt - OMIM)
WNT1
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
WNT1
(0.64)
PORCN


Citations in the biomedical literature:


Osteogenesis imperfecta type 4
COL1A1 COL1A2 CRTAP PPIB SP7 TMEM38B
WNT1
Focal dermal hypoplasia
PORCN



Osteogenesis imperfecta type 4
Focal dermal hypoplasia

Synonym(s):
- OI type 4
Synonym(s):
- Goltz syndrome
- Goltz-Gorlin syndrome
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare odontologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
- Rare skin disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: x-linked dominant
External references:
6 OMIM references -
1 MeSH reference: C536045
External references:
1 OMIM reference -
1 MeSH reference: D005489
Focal dermal hypoplasia

Very frequent
- Abnormal pigmentary skin changes / skin pigmentation anomalies
- Anetodermia / dermal atrophy
- Anodontia / oligodontia / hypodontia
- Anomalies of ear and hearing
- Anomalies of hands
- Camptodactyly of fingers
- Early death / lethality
- Enamel anomaly
- Epiphyseal anomaly
- Herniae
- Low set ears / posteriorly rotated ears
- Lower limb asymmetry / hemiatrophy / hemihypertrophy
- Macules
- Nails anomalies
- Oligodactyly / ectrodactyly of fingers
- Oligodactyly / ectrodactyly of toes
- Rough trabeculation of bone
- Skin hypoplasia / aplasia / atrophy
- Structural anomalies of middle ear / ossicles / tympanic cavity
- Syndactyly of fingers / interdigital palm
- Syndactyly of toes
- Telangiectasiae of the skin
- Thin skin
- Tooth shape anomaly
- Upper limb asymmetry / hemiatrophy / hemihypertrophy
- Upper limb polydactyly / hexadactyly
- Warts / papillomas
- X-linked dominant inheritance

Frequent
- Alopecia
- Aniridia / iris hypoplasia
- Anomalies of teeth and dentition
- Anomalies of the ribs
- Anophthalmos / anophthalmia / microphthalmos / microphthalmia
- Choroidal anomalies / atrophy / choroideremia
- Clavicle absent / abnormal
- Coloboma of iris
- Corneal clouding / opacity / vascularisation
- Dental malocclusion
- Ectopic / horseshoe / fused kidneys
- Erythema / erythematous lesions / erythroderma / polymorphous erythema
- Facial structural asymmetry / facial hemiatrophy / facial hemihypertrophy
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Lens dislocation / luxation / subluxation / ectopia lentis
- Multicystic kidney / renal dysplasia
- Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality
- Scoliosis
- Skin tumors / lumps / epidermal cysts
- Spina bifida
- Strabismus / squint
- Subcutaneous nodules / lipomas / tumefaction / swelling

Occasional
- Abnormal fat distribution / lipodystrophy
- Acute abdominal pain / colic
- Acute hepatic failure
- Agenesis / hypoplasia / aplasia of kidneys
- Bone / osseous neoplasm / tumor / carcinoma / cancer
- Cardiac septal defect
- Diaphragmatic hernia / defect / agenesis
- Duodenal atresia / stenosis / megaduodenum
- Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia
- Hypoplastic lungs / pulmonary hypoplasia / agenesis
- Inguinal / inguinoscrotal / crural hernia
- Mediastinal anomalies
- Megaureter / hydronephrosis / pyeloureteral junction syndrome
- Narrow nasal bridge
- Omphalocele / exomphalos
- Patent ductus arteriosus
- Pointed chin
- Pulmonary veins anomalies
- Umbilical hernia
- Ventricular septal defect / interventricular communication


Osteogenesis imperfecta type 4

(no data available)