MFHIEN
MCID: MDF002
MIFTS: 24

Midface Hypoplasia, Hearing Impairment, Elliptocytosis, and Nephrocalcinosis (MFHIEN)

Categories: Ear diseases, Genetic diseases, Nephrological diseases

Aliases & Classifications for Midface Hypoplasia, Hearing Impairment, Elliptocytosis, and...

MalaCards integrated aliases for Midface Hypoplasia, Hearing Impairment, Elliptocytosis, and Nephrocalcinosis:

Name: Midface Hypoplasia, Hearing Impairment, Elliptocytosis, and Nephrocalcinosis 57 12 73 36 29 6
Mfhien 57 12 73

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Miscellaneous:
onset in infancy
four patients from 2 unrelated families have been reported (last curated january 2017)
carrier females are unaffected

Inheritance:
x-linked recessive


HPO:

31
midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis:
Onset and clinical course infantile onset
Inheritance x-linked recessive inheritance


Classifications:



Summaries for Midface Hypoplasia, Hearing Impairment, Elliptocytosis, and...

KEGG : 36 Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis (MFHIEN) is a X-linked recessive syndrome caused by mutations in AMMECR1. AMMECR1 gene is localized in the critical region of contiguous deletion syndrome on Xq22.3 implicated in Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis (AMME complex).

MalaCards based summary : Midface Hypoplasia, Hearing Impairment, Elliptocytosis, and Nephrocalcinosis, is also known as mfhien. An important gene associated with Midface Hypoplasia, Hearing Impairment, Elliptocytosis, and Nephrocalcinosis is AMMECR1 (AMMECR Nuclear Protein 1). Related phenotypes are short neck and cataract

Disease Ontology : 12 A syndrome characterized by midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis that has material basis in hemizygous mutation in AMMECR1 on chromosome Xq23.

OMIM® : 57 Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis is an X-linked recessive disorder with onset of features in early childhood. Anemia is sometimes present. Some patients may show mild early motor or speech delay, but cognition is normal (summary by Andreoletti et al., 2017). (300990) (Updated 05-Mar-2021)

UniProtKB/Swiss-Prot : 73 Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis: An X-linked recessive disorder with onset in early childhood, characterized by midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis. Variable clinical features include anemia, and mild early motor or speech delay.

Related Diseases for Midface Hypoplasia, Hearing Impairment, Elliptocytosis, and...

Symptoms & Phenotypes for Midface Hypoplasia, Hearing Impairment, Elliptocytosis, and...

Human phenotypes related to Midface Hypoplasia, Hearing Impairment, Elliptocytosis, and Nephrocalcinosis:

31 (show all 42)
# Description HPO Frequency HPO Source Accession
1 short neck 31 very rare (1%) HP:0000470
2 cataract 31 very rare (1%) HP:0000518
3 depressed nasal bridge 31 very rare (1%) HP:0005280
4 delayed speech and language development 31 very rare (1%) HP:0000750
5 short stature 31 very rare (1%) HP:0004322
6 anemia 31 very rare (1%) HP:0001903
7 strabismus 31 very rare (1%) HP:0000486
8 flat face 31 very rare (1%) HP:0012368
9 wide intermamillary distance 31 very rare (1%) HP:0006610
10 micrognathia 31 very rare (1%) HP:0000347
11 talipes equinovarus 31 very rare (1%) HP:0001762
12 downslanted palpebral fissures 31 very rare (1%) HP:0000494
13 narrow mouth 31 very rare (1%) HP:0000160
14 conductive hearing impairment 31 very rare (1%) HP:0000405
15 polyhydramnios 31 very rare (1%) HP:0001561
16 patent ductus arteriosus 31 very rare (1%) HP:0001643
17 nephrocalcinosis 31 very rare (1%) HP:0000121
18 thin upper lip vermilion 31 very rare (1%) HP:0000219
19 large forehead 31 very rare (1%) HP:0002003
20 synophrys 31 very rare (1%) HP:0000664
21 bifid uvula 31 very rare (1%) HP:0000193
22 submucous cleft hard palate 31 very rare (1%) HP:0000176
23 generalized hypotonia 31 very rare (1%) HP:0001290
24 renal dysplasia 31 very rare (1%) HP:0000110
25 short femur 31 very rare (1%) HP:0003097
26 elliptocytosis 31 very rare (1%) HP:0004445
27 patent foramen ovale 31 very rare (1%) HP:0001655
28 cleft hard palate 31 very rare (1%) HP:0410005
29 intellectual disability 31 HP:0001249
30 pes planus 31 HP:0001763
31 sensorineural hearing impairment 31 HP:0000407
32 dental crowding 31 HP:0000678
33 joint hypermobility 31 HP:0001382
34 delayed eruption of teeth 31 HP:0000684
35 clinodactyly of the 5th finger 31 HP:0004209
36 overfolded helix 31 HP:0000396
37 hypercalciuria 31 HP:0002150
38 broad forehead 31 HP:0000337
39 midface retrusion 31 HP:0011800
40 mixed hearing impairment 31 HP:0000410
41 esotropia 31 HP:0000565
42 broad distal phalanx of finger 31 HP:0009836

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Head And Neck Neck:
short neck

Head And Neck Eyes:
strabismus
esotropia
downslanting palpebral fissures
cataracts (1 patient)

Head And Neck Face:
flat face
micrognathia
large forehead
midface hypoplasia

Skeletal Feet:
talipes
flat feet

Skeletal Hands:
fifth finger clinodactyly
square hands
broad distal phalanges
lateral deviation of the fingers

Head And Neck Ears:
hearing loss, conductive
hearing loss, sensorineural
hearing loss, mixed

Cardiovascular Heart:
patent foramen ovale (in some patients)

Muscle Soft Tissue:
hypotonia (1 patient)

Growth Height:
short stature

Head And Neck Mouth:
cleft palate
bifid uvula
thin upper lip
small mouth

Skeletal:
joint hypermobility

Hematology:
elliptocytosis
anemia (in some patients)

Head And Neck Teeth:
delayed tooth eruption
crowded teeth

Neurologic Central Nervous System:
normal cognition
early motor delay, mild
early language delay, mild

Genitourinary Kidneys:
nephrocalcinosis, mild
renal dysplasia (1 patient)

Laboratory Abnormalities:
hypercalciuria, intermittent

Clinical features from OMIM®:

300990 (Updated 05-Mar-2021)

Drugs & Therapeutics for Midface Hypoplasia, Hearing Impairment, Elliptocytosis, and...

Search Clinical Trials , NIH Clinical Center for Midface Hypoplasia, Hearing Impairment, Elliptocytosis, and Nephrocalcinosis

Genetic Tests for Midface Hypoplasia, Hearing Impairment, Elliptocytosis, and...

Genetic tests related to Midface Hypoplasia, Hearing Impairment, Elliptocytosis, and Nephrocalcinosis:

# Genetic test Affiliating Genes
1 Midface Hypoplasia, Hearing Impairment, Elliptocytosis, and Nephrocalcinosis 29 AMMECR1

Anatomical Context for Midface Hypoplasia, Hearing Impairment, Elliptocytosis, and...

Publications for Midface Hypoplasia, Hearing Impairment, Elliptocytosis, and...

Articles related to Midface Hypoplasia, Hearing Impairment, Elliptocytosis, and Nephrocalcinosis:

# Title Authors PMID Year
1
AMMECR1: a single point mutation causes developmental delay, midface hypoplasia and elliptocytosis. 57 6
27811305 2017
2
Corrigendum to "X-linked elliptocytosis with impaired growth is related to mutated AMMECR1" [Gene 606C (2017) 47-52]. 6
29174631 2018
3
X-linked elliptocytosis with impaired growth is related to mutated AMMECR1. 57
28089922 2017

Variations for Midface Hypoplasia, Hearing Impairment, Elliptocytosis, and...

ClinVar genetic disease variations for Midface Hypoplasia, Hearing Impairment, Elliptocytosis, and Nephrocalcinosis:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 AMMECR1 NM_015365.3(AMMECR1):c.502C>T (p.Arg168Ter) SNV Pathogenic 375305 rs1057519338 X:109507799-109507799 X:110264571-110264571
2 AMMECR1 NM_015365.3(AMMECR1):c.530G>A (p.Gly177Asp) SNV Pathogenic 375304 rs1057519337 X:109507771-109507771 X:110264543-110264543
3 AMMECR1 NM_015365.3(AMMECR1):c.429T>A (p.Tyr143Ter) SNV Pathogenic 446130 rs765498367 X:109560871-109560871 X:110317643-110317643
4 AMMECR1 NC_000023.11:g.110250890_110665082del Deletion Pathogenic 446219 X:110250890-110665082
5 AMMECR1 t(X;9)(q23;q12)dn Translocation Likely pathogenic 592175
6 AMMECR1 Duplication Uncertain significance 560072 X:109412385-109552503

UniProtKB/Swiss-Prot genetic disease variations for Midface Hypoplasia, Hearing Impairment, Elliptocytosis, and Nephrocalcinosis:

73
# Symbol AA change Variation ID SNP ID
1 AMMECR1 p.Gly177Asp VAR_078027 rs105751933

Expression for Midface Hypoplasia, Hearing Impairment, Elliptocytosis, and...

Search GEO for disease gene expression data for Midface Hypoplasia, Hearing Impairment, Elliptocytosis, and Nephrocalcinosis.

Pathways for Midface Hypoplasia, Hearing Impairment, Elliptocytosis, and...

GO Terms for Midface Hypoplasia, Hearing Impairment, Elliptocytosis, and...

Sources for Midface Hypoplasia, Hearing Impairment, Elliptocytosis, and...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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