Information on ADMFD

Basic details

Name: Autoimmune disease, syndromic multisystem, with facial dysmorphism | Acronym: ADMFD
Alt. names:

Gene: ITCH | MOI: Autosomal recessive | Mechanism of action:

No. of cases in DB: 0 | First reported in: 2010

Last updated on: 2023-02-28 16:41:18 by

OMIM: 613385

Orphanet: -

MONDO: -

DOID: -

ClinGen:

Description

Individuals typically present with multisystem malformations, which may aid in clinical recognition, but awareness of disease may allow corticosteroid and other related immunosuppressive treatment related to autoimmune manifestations (including hypothyroidism, which responds to standard hormone replacement therapy), as well as awareness of the risk of frequent infections, which can allow prophylaxis/surveillance for infectious diseases, and early and aggressive treatment of infections. Refs. PMIDs: 20170897

Management

Description of management option has not been reviewed yet.

Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.

0 reported cases added to GenIA

SubjectID	Sex	Fam.ID	AD	AFM	Validity	Country	Population	Reference & Pub.code

AD: Age at genetic diagnosis; AFM: age at first manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).

Summary of clinical findings

[Considering only Definitive and Possible cases]

Rank	Clinical term	Present	Unreported
1	Camptodactyly	11 (99.9%)	0 (0.0%)
2	Frontal bossing	11 (99.9%)	0 (0.0%)
3	Global developmental delay	11 (99.9%)	0 (0.0%)
4	Proptosis	11 (99.9%)	0 (0.0%)
5	Short chin	11 (99.9%)	0 (0.0%)
6	Facial dysmorphism	10 (99.9%)	0 (0.0%)
7	Failure to thrive in infancy	10 (99.9%)	0 (0.0%)
8	Relative macrocephaly	10 (90.9%)	1 (9.1%)
9	Chronic lung disease	9 (90.0%)	1 (10.0%)
10	Hepatomegaly	9 (90.0%)	1 (10.0%)
11	Autoimmunity	7 (63.6%)	4 (36.4%)
12	Gastrostomy tube feeding in infancy	6 (60.0%)	4 (40.0%)
13	Generalized hypotonia	6 (60.0%)	4 (40.0%)
14	Hypothyroidism	4 (40.0%)	6 (60.0%)
15	Chronic diarrhea	3 (27.3%)	8 (72.7%)
16	Hepatitis	3 (30.0%)	7 (70.0%)
17	short stature	2 (99.9%)	0 (0.0%)
18	Type I diabetes mellitus	2 (18.2%)	9 (81.8%)
19	Choanal atresia	1 (99.9%)	0 (0.0%)
20	Convex nasal ridge	1 (99.9%)	0 (0.0%)
21	Decreased IgA levels	1 (99.9%)	0 (0.0%)
22	Delayed skeletal maturation	1 (99.9%)	0 (0.0%)
23	Feeding difficulties in infancy	1 (99.9%)	0 (0.0%)
24	Gastroesophageal reflux	1 (99.9%)	0 (0.0%)
25	Hallux valgus	1 (99.9%)	0 (0.0%)
26	Autoimmune thyroiditis	1 (99.9%)	0 (0.0%)
27	Hypersplenism	1 (99.9%)	0 (0.0%)
28	Hypertelorism	1 (99.9%)	0 (0.0%)
29	Muscular hypotonia	1 (99.9%)	0 (0.0%)
30	Increased vertebral height	1 (99.9%)	0 (0.0%)
31	Limited elbow extension	1 (99.9%)	0 (0.0%)
32	Low hanging columella	1 (99.9%)	0 (0.0%)
33	Low-set ears	1 (99.9%)	0 (0.0%)
34	Lumbar hyperlordosis	1 (99.9%)	0 (0.0%)
35	Motor delay	1 (99.9%)	0 (0.0%)
36	Pancytopenia	1 (99.9%)	0 (0.0%)
37	Pectus excavatum	1 (99.9%)	0 (0.0%)
38	Portal hypertension	1 (99.9%)	0 (0.0%)
39	Ptosis	1 (99.9%)	0 (0.0%)
40	Recurrent respiratory infections	1 (99.9%)	0 (0.0%)
41	Reduced forced expiratory volume in one second	1 (99.9%)	0 (0.0%)
42	Short philtrum	1 (99.9%)	0 (0.0%)
43	Single transverse palmar crease	1 (99.9%)	0 (0.0%)
44	Slender long bone	1 (99.9%)	0 (0.0%)
45	Thoracic kyphoscoliosis	1 (99.9%)	0 (0.0%)

Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.

Summary of treatment outcomes

[Considering only Definitive and Possible cases]

Treatment ⓘ	Responses & clinical indications

Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.