MCID: MND021
MIFTS: 44

Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome

Categories: Genetic diseases, Metabolic diseases, Ear diseases, Skin diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Mandibular Hypoplasia, Deafness, Progeroid Features, and...

MalaCards integrated aliases for Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome:

Name: Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome 57 75 29 6
Lipodystrophy 44 73
Mdpl 57 75
Hypoplasia, Mandibular, Deafness, Progeroid Features, and Lipodystrophy Syndrome 40
Andibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome 73
Mandibular Hypoplasia-Hearing Loss-Progeroid Syndrome 59
Mandibular Hypoplasia-Deafness-Progeroid Syndrome 59
Mdp Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
mandibular hypoplasia-deafness-progeroid syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset of lipodystrophy in early childhood
onset of hearing loss in first or second decade


HPO:

32
mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Mandibular Hypoplasia, Deafness, Progeroid Features, and...

UniProtKB/Swiss-Prot : 75 Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome: An autosomal dominant systemic disorder characterized by prominent loss of subcutaneous fat, metabolic abnormalities including insulin resistance and diabetes mellitus, sclerodermatous skin, and a facial appearance characterized by mandibular hypoplasia. Sensorineural deafness occurs late in the first or second decades of life.

MalaCards based summary : Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome, also known as lipodystrophy, is related to lipodystrophy, familial partial, type 2 and partial lipodystrophy, and has symptoms including decreased adipose tissue An important gene associated with Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome is POLD1 (DNA Polymerase Delta 1, Catalytic Subunit), and among its related pathways/superpathways are Glucose / Energy Metabolism and Type II diabetes mellitus. Affiliated tissues include skin, testes and liver, and related phenotypes are cryptorchidism and hypogonadism

OMIM : 57 Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL) is an autosomal dominant systemic disorder characterized by prominent loss of subcutaneous fat, a characteristic facial appearance, and metabolic abnormalities including insulin resistance and diabetes mellitus. Sensorineural deafness occurs late in the first or second decades of life (summary by Weedon et al., 2013). (615381)

Related Diseases for Mandibular Hypoplasia, Deafness, Progeroid Features, and...

Diseases related to Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 89)
# Related Disease Score Top Affiliating Genes
1 lipodystrophy, familial partial, type 2 34.0 INS LMNA
2 partial lipodystrophy 33.7 BSCL2 LMNA
3 berardinelli-seip congenital lipodystrophy 32.7 AGPAT2 BSCL2
4 congenital generalized lipodystrophy 31.5 AGPAT2 BSCL2 INS LMNA
5 familial partial lipodystrophy 31.4 AGPAT2 BSCL2 INS LMNA
6 hutchinson-gilford progeria syndrome 31.4 ADIPOQ LMNA
7 diabetes mellitus, noninsulin-dependent 29.5 ADIPOQ INS LMNA
8 fatty liver disease 28.7 ADIPOQ INS
9 lipodystrophy, congenital generalized, type 4 12.5
10 lipodystrophy, partial, acquired 12.5
11 lipodystrophy, congenital generalized, type 2 12.5
12 lipodystrophy, congenital generalized, type 1 12.5
13 lipodystrophy, congenital generalized, type 3 12.5
14 acquired generalized lipodystrophy 12.5
15 marfan lipodystrophy syndrome 12.4
16 lipodystrophy, familial partial, type 1 12.4
17 autoinflammation, lipodystrophy, and dermatosis syndrome 12.4
18 localized lipodystrophy 12.4
19 lipodystrophy, familial partial, type 3 12.4
20 lipodystrophy, familial partial, type 4 12.4
21 mandibuloacral dysplasia with type a lipodystrophy 12.3
22 lipodystrophy, familial partial, type 5 12.3
23 lipodystrophy, familial partial, type 6 12.3
24 mandibuloacral dysplasia with type b lipodystrophy 12.2
25 partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome 12.2
26 encephalopathy, progressive, with or without lipodystrophy 12.2
27 lipodystrophy, partial, acquired, with low complement component c3, with or without glomerulonephritis 12.1
28 familial partial lipodystrophy due to akt2 mutations 12.0
29 complete generalized lipodystrophy 12.0
30 panniculitis-induced localized lipodystrophy 11.9
31 short syndrome 11.9
32 lipe-related familial partial lipodystrophy 11.8
33 lipodystrophy, generalized, with mental retardation, deafness, short stature, and slender bones 11.8
34 lipodystrophy due to peptidic growth factors deficiency 11.7
35 keppen-lubinsky syndrome 11.7
36 lipomatosis, multiple symmetric 11.3
37 whipple disease 11.1
38 growth factors, combined defect of 11.1
39 stiff skin syndrome 11.0
40 analbuminemia 10.9
41 autoinflammation, panniculitis, and dermatosis syndrome 10.9
42 lipase deficiency, combined 10.8
43 ruijs-aalfs syndrome 10.8
44 atypical werner syndrome 10.8
45 congenital analbuminemia 10.8
46 insulin-resistance type b 10.8
47 peritonitis 10.8
48 igg4-related mesenteritis 10.8
49 mdp syndrome 10.2
50 hepatitis 10.1

Graphical network of the top 20 diseases related to Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome:



Diseases related to Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome

Symptoms & Phenotypes for Mandibular Hypoplasia, Deafness, Progeroid Features, and...

Symptoms via clinical synopsis from OMIM:

57
Endocrine Features:
diabetes mellitus
insulin resistance
hypogonadism (in males)

Abdomen Liver:
hepatomegaly
hepatic steatosis

Laboratory Abnormalities:
hypertriglyceridemia
abnormal liver function tests

Muscle Soft Tissue:
lipodystrophy
loss of subcutaneous fat, generalized
loss of subcutaneous fat, particularly affecting the limbs
increased visceral fat

Head And Neck Nose:
beaked nose

Head And Neck Face:
mandibular hypoplasia
progeroid appearance

Head And Neck Ears:
sensorineural deafness

Head And Neck Eyes:
prominent eyes

Chest Breasts:
poor breast development (in women)

Skeletal Spine:
scoliosis
kyphosis

Skeletal:
osteoporosis
joint contractures

GenitourinaryInternal GenitaliaMale:
cryptorchidism

Growth Weight:
normal birth weight

Head And Neck Mouth:
small mouth

Voice:
high-pitched voice

Skin Nails Hair Skin:
skin atrophy
telangiectases
tight skin
scleroderma-like changes

Head And Neck Teeth:
crowded teeth


Clinical features from OMIM:

615381

Human phenotypes related to Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome:

32 (show all 23)
# Description HPO Frequency HPO Source Accession
1 cryptorchidism 32 HP:0000028
2 hypogonadism 32 HP:0000135
3 narrow mouth 32 HP:0000160
4 micrognathia 32 HP:0000347
5 sensorineural hearing impairment 32 HP:0000407
6 convex nasal ridge 32 HP:0000444
7 proptosis 32 HP:0000520
8 dental crowding 32 HP:0000678
9 diabetes mellitus 32 HP:0000819
10 insulin resistance 32 HP:0000855
11 osteoporosis 32 HP:0000939
12 telangiectasia 32 HP:0001009
13 flexion contracture 32 HP:0001371
14 hepatic steatosis 32 HP:0001397
15 high pitched voice 32 HP:0001620
16 hypertriglyceridemia 32 HP:0002155
17 hepatomegaly 32 HP:0002240
18 scoliosis 32 HP:0002650
19 kyphosis 32 HP:0002808
20 elevated hepatic transaminases 32 HP:0002910
21 dermal atrophy 32 HP:0004334
22 lipodystrophy 32 HP:0009125
23 lack of skin elasticity 32 HP:0100679

UMLS symptoms related to Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome:


decreased adipose tissue

MGI Mouse Phenotypes related to Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome:

46 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 adipose tissue MP:0005375 9.92 LMNA ADIPOQ AGPAT2 BSCL2 INS
2 behavior/neurological MP:0005386 9.91 ADIPOQ AGPAT2 BSCL2 INS LMNA
3 endocrine/exocrine gland MP:0005379 9.91 ADIPOQ AGPAT2 BSCL2 INS LMNA POLD1
4 cardiovascular system MP:0005385 9.89 ADIPOQ BSCL2 INS LMNA POLD1
5 cellular MP:0005384 9.88 ADIPOQ BSCL2 INS LMNA POLD1
6 hematopoietic system MP:0005397 9.88 ADIPOQ AGPAT2 BSCL2 INS LMNA POLD1
7 immune system MP:0005387 9.85 ADIPOQ AGPAT2 BSCL2 INS LMNA POLD1
8 integument MP:0010771 9.8 ADIPOQ AGPAT2 BSCL2 INS LMNA POLD1
9 digestive/alimentary MP:0005381 9.76 AGPAT2 BSCL2 INS LMNA
10 liver/biliary system MP:0005370 9.65 ADIPOQ AGPAT2 BSCL2 INS LMNA
11 mortality/aging MP:0010768 9.63 ADIPOQ AGPAT2 BSCL2 INS LMNA POLD1
12 muscle MP:0005369 9.26 LMNA POLD1 ADIPOQ INS
13 renal/urinary system MP:0005367 9.02 ADIPOQ AGPAT2 BSCL2 INS LMNA

Drugs & Therapeutics for Mandibular Hypoplasia, Deafness, Progeroid Features, and...

Search Clinical Trials , NIH Clinical Center for Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome

Inferred drug relations via UMLS 73 / NDF-RT 51 :


Cochrane evidence based reviews: lipodystrophy

Genetic Tests for Mandibular Hypoplasia, Deafness, Progeroid Features, and...

Genetic tests related to Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome:

# Genetic test Affiliating Genes
1 Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome 29 POLD1

Anatomical Context for Mandibular Hypoplasia, Deafness, Progeroid Features, and...

MalaCards organs/tissues related to Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome:

41
Skin, Testes, Liver, Eye

Publications for Mandibular Hypoplasia, Deafness, Progeroid Features, and...

Articles related to Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome:

# Title Authors Year
1
Exome sequencing reveals a de novo POLD1 mutation causing phenotypic variability in mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL). ( 28521875 )
2017

Variations for Mandibular Hypoplasia, Deafness, Progeroid Features, and...

ClinVar genetic disease variations for Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 POLD1 NM_002691.3(POLD1): c.1812_1814delCTC (p.Ser605del) deletion Pathogenic rs398122386 GRCh37 Chromosome 19, 50912078: 50912080
2 POLD1 NM_002691.3(POLD1): c.1812_1814delCTC (p.Ser605del) deletion Pathogenic rs398122386 GRCh38 Chromosome 19, 50408821: 50408823
3 LMNA NM_005572.3(LMNA): c.898G> A (p.Asp300Asn) single nucleotide variant Likely pathogenic rs267607591 GRCh37 Chromosome 1, 156105065: 156105065
4 LMNA NM_005572.3(LMNA): c.898G> A (p.Asp300Asn) single nucleotide variant Likely pathogenic rs267607591 GRCh38 Chromosome 1, 156135274: 156135274

Expression for Mandibular Hypoplasia, Deafness, Progeroid Features, and...

Search GEO for disease gene expression data for Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome.

Pathways for Mandibular Hypoplasia, Deafness, Progeroid Features, and...

Pathways related to Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.75 ADIPOQ AGPAT2 BSCL2 INS
2
Show member pathways
11.14 ADIPOQ INS
3 11.14 ADIPOQ AGPAT2 BSCL2 INS LMNA

GO Terms for Mandibular Hypoplasia, Deafness, Progeroid Features, and...

Biological processes related to Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 glucose homeostasis GO:0042593 9.48 ADIPOQ INS
2 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.46 ADIPOQ INS
3 response to glucose GO:0009749 9.43 ADIPOQ INS
4 glucose metabolic process GO:0006006 9.4 ADIPOQ INS
5 response to nutrient levels GO:0031667 9.37 ADIPOQ INS
6 positive regulation of glucose import GO:0046326 9.32 ADIPOQ INS
7 negative regulation of lipid catabolic process GO:0050995 9.26 BSCL2 INS
8 positive regulation of cellular protein metabolic process GO:0032270 9.16 ADIPOQ INS
9 negative regulation of gluconeogenesis GO:0045721 8.96 ADIPOQ INS
10 fatty acid homeostasis GO:0055089 8.62 INS POLD1

Molecular functions related to Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hormone activity GO:0005179 8.62 ADIPOQ INS

Sources for Mandibular Hypoplasia, Deafness, Progeroid Features, and...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
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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