MCID: MDF002
MIFTS: 16

Midface Hypoplasia, Hearing Impairment, Elliptocytosis, and Nephrocalcinosis

Categories: 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 75 6
Mfhien 57 75

Characteristics:

OMIM:

57
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:

32
midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis:
Inheritance x-linked recessive inheritance


Classifications:



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

UniProtKB/Swiss-Prot : 75 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.

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 (Alport Syndrome, Mental Retardation, Midface Hypoplasia And Elliptocytosis Chromosomal Region Gene 1). Related phenotypes are intellectual disability and sensorineural hearing impairment

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)

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

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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Neck:
short neck

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

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

Skeletal Feet:
talipes
flat feet

Skeletal Hands:
fifth finger clinodactyly
broad distal phalanges
square hands
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 Face:
micrognathia
flat face
large forehead
midface hypoplasia

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

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

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 sensorineural hearing impairment 32 HP:0000407
3 micrognathia 32 HP:0000347
4 flat face 32 HP:0012368
5 hypercalciuria 32 HP:0002150
6 broad forehead 32 HP:0000337
7 talipes 32 HP:0001883
8 elliptocytosis 32 HP:0004445

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...

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

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

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

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

75
# Symbol AA change Variation ID SNP ID
1 AMMECR1 p.Gly177Asp VAR_078027 rs1057519337Midface

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 AMMECR1 NM_015365.2(AMMECR1): c.530G> A (p.Gly177Asp) single nucleotide variant Pathogenic rs1057519337 GRCh38 Chromosome X, 110264543: 110264543
2 AMMECR1 NM_015365.2(AMMECR1): c.530G> A (p.Gly177Asp) single nucleotide variant Pathogenic rs1057519337 GRCh37 Chromosome X, 109507771: 109507771
3 AMMECR1 NM_015365.2(AMMECR1): c.502C> T (p.Arg168Ter) single nucleotide variant Pathogenic rs1057519338 GRCh38 Chromosome X, 110264571: 110264571
4 AMMECR1 NM_015365.2(AMMECR1): c.502C> T (p.Arg168Ter) single nucleotide variant Pathogenic rs1057519338 GRCh37 Chromosome X, 109507799: 109507799
5 AMMECR1 NM_015365.2(AMMECR1): c.429T> A (p.Tyr143Ter) single nucleotide variant Pathogenic rs765498367 GRCh37 Chromosome X, 109560871: 109560871
6 AMMECR1 NM_015365.2(AMMECR1): c.429T> A (p.Tyr143Ter) single nucleotide variant Pathogenic rs765498367 GRCh38 Chromosome X, 110317643: 110317643
7 AMMECR1; RTL9 NC_000023.11: g.110250890_110665082del deletion Pathogenic GRCh38 Chromosome X, 110250890: 110665082

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
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10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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31 HMDB
32 HPO
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34 ICD10 via Orphanet
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45 MESH via Orphanet
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54 NINDS
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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