ORPHA:2176

Infantile systemic hyalinosis

This disease is described under Hyaline fibromatosis syndrome

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Infantile systemic hyalinosis
fr	Hyalinose systémique infantile
de	Hyalinose, infantile systemische
es	Hialinosis sistémica infantil
it	Ialinosi sistemica infantile
nl	Infantiele systemische hyalinose
pt	Hialinose sistémica da infância
pl	Dziecięca hialinoza uogólniona
cs	Infantilní systémová hyalinóza
uk	Інфантильний системний гіаліноз
zh	婴儿全身性玻璃样变性
tr	İnfantil sistemik hiyalinoz

Definition in:

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	228600	NTBT		validated
ICD-10	E78.8	NTBT	index	validated
ICD-11	EE6Y	NTBT	index	validated
MONDO	0016331	E		validated
UMLS	C5574678	E		validated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

Preferential parent (Orphanet linearisation):

Parents in the classifications (2):

ORPHA:498474Hyaline fibromatosis syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
ORPHA:139027Rare developmental defect with skin/mucosae involvement
rare developmental anomalies during embryogenesis; rare genetic diseases

No children.

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
ANTXR2	Disease-causing germline mutation(s) in	Assessed	HGNC:21732	ENSG00000163297	608041	4q21.21	ANTXR cell adhesion molecule 2	14508707[PMID]

1 record

Type	Class	Value	Area	Qualification	Validation	Source
Point prevalence	<1 / 1 000 000	—	Worldwide	Class only	Validated	ORPHANET_25754064[PMID]

Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.

37 annotations · validated 2017-06-22

HPO	Term (as annotated by Orphanet)	Diagnostic
Very frequent (99-80%)
HP:0006482	Abnormal dental morphology
HP:0000834	Abnormality of the adrenal glands
HP:0011024	Abnormality of the gastrointestinal tract
HP:0003011	Abnormality of the musculature
HP:0010515	Aplasia/Hypoplasia of the thymus
HP:0001156	Brachydactyly
HP:0100490	Camptodactyly of finger
HP:0002028	Chronic diarrhea
HP:0000280	Coarse facial features
HP:0001508	Failure to thrive
HP:0011968	Feeding difficulties
HP:0000212	Gingival overgrowth
HP:0001510	Growth delay
HP:0000953	Hyperpigmentation of the skin
HP:0001252	Hypotonia
HP:0002721	Immunodeficiency
HP:0002659	Increased susceptibility to fractures
HP:0001387	Joint stiffness
HP:0001004	Lymphedema
HP:0000256	Macrocephaly
HP:0002024	Malabsorption
HP:0002983	Micromelia
HP:0002749	Osteomalacia
HP:0000938	Osteopenia
HP:0000939	Osteoporosis
HP:0000147	Polycystic ovaries
HP:0002718	Recurrent bacterial infections
HP:0002757	Recurrent fractures
HP:0003510	Severe short stature
HP:0000470	Short neck
HP:0004279	Short palm
HP:0200042	Skin ulcer
HP:0002570	Steatorrhea
HP:0001482	Subcutaneous nodule
HP:0100585	Telangiectasia of the skin
HP:0001072	Thickened skin
HP:0001025	Urticaria

Annotation source: 14508707[PMID]