Gene Summary

Name:
fatty acyl CoA reductase 2
Synonyms:
Mlstd1

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased circulating HDL cholesterol level Far2tm2b(KOMP)Wtsi HOM Early adult 2.16×10-07
abnormal lens morphology Far2tm2b(KOMP)Wtsi HOM   Early adult 1.80×10-05
increased fasting circulating glucose level Far2tm2b(KOMP)Wtsi HOM Early adult 1.45×10-09
increased heart weight Far2tm2b(KOMP)Wtsi HOM Early adult 3.52×10-11
abnormal coat appearance Far2tm2b(KOMP)Wtsi HOM Early adult 7.36×10-15
decreased circulating cholesterol level Far2tm2b(KOMP)Wtsi HOM Early adult 9.38×10-11

Download data as:  TSV  XLS

Select physiological systems to view:
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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 100% (2 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Epididymis N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 50% (1 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote Not available
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 100% (2 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Submandibular gland N/A heterozygote 0.0% (0 of 2)
Testis N/A heterozygote 0.0% (0 of 2)
Thalamus N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
Vesicular gland N/A heterozygote Not available
White adipose tissue N/A heterozygote 0.0% (0 of 2)

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 0.0% (0 of 2)
Brain N/A homozygote Ambiguous
Dorsal root ganglion N/A heterozygote 0.0% (0 of 1)
N/A Ambiguous
Ear N/A heterozygote 0.0% (0 of 2)
Ear N/A homozygote Ambiguous
Embryo N/A heterozygote 0.0% (0 of 2)
Embryo N/A homozygote Ambiguous
Eye N/A heterozygote 0.0% (0 of 2)
Eye N/A homozygote Ambiguous
Footplate N/A heterozygote 0.0% (0 of 2)
Footplate N/A homozygote Ambiguous
Forebrain N/A heterozygote 0.0% (0 of 2)
Forebrain N/A homozygote Ambiguous
Forelimb N/A heterozygote 0.0% (0 of 2)
Forelimb N/A homozygote Ambiguous
Fronto-nasal process N/A heterozygote 0.0% (0 of 1)
N/A Ambiguous
Handplate N/A heterozygote 0.0% (0 of 2)
Handplate N/A homozygote Ambiguous
Head N/A heterozygote 0.0% (0 of 2)
Head N/A homozygote Ambiguous
Heart N/A heterozygote 0.0% (0 of 2)
Heart N/A homozygote Ambiguous
Hindbrain N/A heterozygote 0.0% (0 of 2)
Hindbrain N/A homozygote Ambiguous
Hindlimb N/A heterozygote 0.0% (0 of 2)
Hindlimb N/A homozygote Ambiguous
Liver N/A heterozygote 0.0% (0 of 2)
Liver N/A homozygote Ambiguous
Lung N/A heterozygote 0.0% (0 of 2)
Lung N/A homozygote Ambiguous
Mandibular process N/A heterozygote 0.0% (0 of 2)
Mandibular process N/A homozygote Ambiguous
Maxillary process N/A heterozygote 0.0% (0 of 2)
Maxillary process N/A homozygote Ambiguous
Midbrain N/A heterozygote 0.0% (0 of 2)
Midbrain N/A homozygote Ambiguous
Nose N/A heterozygote 0.0% (0 of 1)
N/A Ambiguous
Oral cavity N/A heterozygote 0.0% (0 of 2)
Oral cavity N/A homozygote Ambiguous
Skin N/A heterozygote 0.0% (0 of 2)
Skin N/A homozygote Ambiguous
Spinal cord N/A heterozygote 0.0% (0 of 1)
N/A Ambiguous
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail somite N/A homozygote Ambiguous
Tail N/A heterozygote 0.0% (0 of 2)
Tail N/A homozygote Ambiguous

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
submandibular gland 0.0%
testis 0.0%
thalamus 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
urinary bladder
uterus 0.0%
vascular system 0.0%
vesicular gland Unavailable
white adipose tissue 0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 0.0%
dorsal root ganglion Ambiguous
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
fronto-nasal process Ambiguous
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
nose Ambiguous
oral cavity 0.0%
skin 0.0%
spinal cord Ambiguous
tail 0.0%
tail somite group 0.0%

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Lateral Orientation

12 Images

Sleep Wake

Wake state (bmp file)

12 Images

Combined SHIRPA and Dysmorphology

Images

20 Images

Eye Morphology

Images Slit Lamp

4 Images

Embryo LacZ

LacZ images wholemount

4 Images

X-ray

XRay Images Whole Body Dorso Ventral

12 Images

X-ray

XRay Images Forepaw

12 Images

X-ray

XRay Images Skull Lateral Orientation

12 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

12 Images

Eye Morphology

Images Ophthalmoscopy

5 Images

Adult LacZ

LacZ Images Section

4 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

Electroretinography

Rod waveform (pdf format)

2 Images

Electroretinography 2

Rod and cone PDF

1 Images

Electroretinography

Cone waveform (pdf format)

2 Images

Human diseases caused by Far2 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Far2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Alopecia Areata 2
Alopecia universalis, Patchy alopecia, Alopecia of scalp, Alopecia totalis OMIM:610753
Alopecia Universalis Congenita
Alopecia universalis, Absent eyelashes, Absent eyebrow, Absent pubic hair, Absent axillary hair OMIM:203655
Hypotrichosis Simplex
Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse hair, Sparse scalp hair ORPHA:55654
Alopecia Areata 1
Alopecia universalis, Alopecia totalis, Patchy alopecia, Trachyonychia, Nail pits OMIM:104000
Hypotrichosis 4
Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Uncombable hair, Sparse scalp hair OMIM:146550
Hypotrichosis 11
Alopecia universalis, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Absent axill... OMIM:615059
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Hypotriglyceridemia, Hypocholesterolemia, Decreased circulating apolipoprotein A-I concentration,... OMIM:620058
Alopecia-Intellectual Disability Syndrome 1
Alopecia universalis, Alopecia OMIM:203650
Ectodermal Dysplasia 6, Hair/Nail Type
Alopecia, Sparse hair, Thin toenail, Dystrophic toenail OMIM:614928
Graham Little-Piccardi-Lassueur Syndrome
Alopecia, Sparse axillary hair, Sparse pubic hair, Sparse scalp hair ORPHA:505
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Alopecia, Alopecia of scalp OMIM:260910
Odonto-Onycho Dysplasia-Alopecia Syndrome
Alopecia, Sparse eyebrow, Sparse body hair, Abnormal fingernail morphology, Hypoplastic toenails,... ORPHA:2722
Alopecia, Familial Focal
Patchy alopecia OMIM:104110
Alopecia-Intellectual Disability Syndrome 2
Alopecia universalis OMIM:610422
Alopecia-Intellectual Disability Syndrome 3
Alopecia universalis OMIM:613930
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
Ridged nail, Nail pits, Congenital alopecia totalis ORPHA:169095
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome
Alopecia totalis ORPHA:1014
Parc Syndrome
Absent eyelashes, Alopecia, Absent eyebrow OMIM:600331
L-Ferritin Deficiency
Alopecia OMIM:615604
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia, Dystrophic toenail, Sparse body hair, Onychogryposis of toenails, Alopecia of scalp OMIM:617294
Candidiasis, Familial, 1
Alopecia OMIM:114580
Thumb Deformity And Alopecia
Alopecia OMIM:188150
Hypotrichosis 1
Sparse pubic hair, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse axillary hair, Spar... OMIM:605389
Trichodysplasia-Xeroderma Syndrome
Alopecia, Coarse hair, Sparse eyebrow, Sparse body hair, Trichorrhexis nodosa, Trichodysplasia, P... ORPHA:3361
Hypotrichosis 5
Abnormal sweat gland morphology, Alopecia, Thin eyebrow, Sparse eyelashes, Absent pubic hair, Abs... OMIM:612841
Limbal Stem Cell Deficiency
Blepharospasm, Corneal perforation, Opacification of the corneal epithelium, Epiphora, Keratitis,... ORPHA:171673
Kerion Celsi
Alopecia ORPHA:499
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Alopecia, Nail pits, Ridged nail, Nail dystrophy OMIM:601705
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive
Alopecia, Nail dystrophy OMIM:616487
Marie Unna Hereditary Hypotrichosis
Alopecia, Coarse hair, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, Sparse scal... ORPHA:444
Trichodysplasia-Amelogenesis Imperfecta Syndrome
Trichodysplasia, Alopecia of scalp ORPHA:79129
Keratoendotheliitis Fugax Hereditaria
Conjunctival hyperemia, Epiphora, Opacification of the corneal stroma, Keratitis OMIM:148200
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Alopecia universalis, Abnormal eyelash morphology, Sparse scalp hair, Sparse body hair ORPHA:1008
Hidrotic Ectodermal Dysplasia
Generalized hypotrichosis, Alopecia, Sparse pubic hair, Brittle scalp hair, Small nail, Sparse ey... ORPHA:189
Uncombable Hair Syndrome
Coarse hair, White hair, Abnormal hair morphology, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Bullous Dystrophy, Hereditary Macular Type
Alopecia totalis, Abnormality of the nail OMIM:302000
Ectodermal Dysplasia 4, Hair/Nail Type
Abnormal sweat gland morphology, Alopecia, Sparse body hair, Congenital onychodystrophy, Nail dys... OMIM:602032
Monilethrix
Alopecia, Nail dystrophy, Nail dysplasia, Brittle hair, Abnormality of hair texture, Sparse hair OMIM:158000
Pili Torti
Alopecia, Abnormal eyebrow morphology, Pili torti, Brittle hair, Abnormality of hair texture, Abn... ORPHA:2889
Crandall Syndrome
Alopecia, Fine hair, Sparse body hair, Brittle hair, Pili torti, Abnormal testis morphology, Apla... ORPHA:202
Corneal Dystrophy, Meesmann, 1
Epiphora, Punctate opacification of the cornea, Corneal dystrophy OMIM:122100
Ectodermal Dysplasia 7, Hair/Nail Type
Abnormal sweat gland morphology, Alopecia, Sparse eyebrow, Dystrophic toenail, Sparse eyelashes, ... OMIM:614929
Epithelial Recurrent Erosion Dystrophy
Epiphora, Corneal erosion OMIM:122400
Corneal Dystrophy, Meesmann, 2
Recurrent corneal erosions, Epiphora OMIM:618767
Quinquaud Folliculitis Decalvans
Abnormal hair morphology, Patchy alopecia, Scarring alopecia of scalp ORPHA:346
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Alopecia, Fine hair, Abnormal fingernail morphology, Abnormal hair morphology, Abnormal toenail m... ORPHA:248
Pseudopelade Of Brocq
Alopecia, Abnormal hair morphology, Aplasia/Hypoplasia of the eyebrow, Abnormality of the nail, S... ORPHA:129
Oliver-Mcfarlane Syndrome
Alopecia, Decreased response to growth hormone stimulation test, Long eyelashes, Cryptorchidism, ... OMIM:275400
Björnstad Syndrome
Alopecia, Brittle hair ORPHA:123
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Alopecia, Sparse eyebrow, Dystrophic toenail, Fine hair, Lacrimation abnormality, Dystrophic fing... ORPHA:1882
Moynahan Syndrome
Alopecia, Sparse hair ORPHA:2574
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Hypocholesterolemia, Decreased LDL cholesterol concentration, Developmental cataract, Decreased H... OMIM:616834
Epithelial Recurrent Erosion Dystrophy
Epiphora, Corneal scarring, Irregular astigmatism, Subepithelial corneal opacities, Recurrent cor... ORPHA:293381
Neurotrophic Keratopathy
Corneal perforation, Corneal scarring, Astigmatism, Recurrent corneal erosions, Lacrimation abnor... ORPHA:137596
Porphyria Cutanea Tarda
Alopecia, Onycholysis, Facial hypertrichosis OMIM:176100
Cortisone Reductase Deficiency 1
Alopecia, Hirsutism OMIM:604931
Ring Dermoid Of Cornea
Abnormal cornea morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Conjunctival... OMIM:180550
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... ORPHA:79506
Monilethrix
Fine hair, Abnormal eyebrow morphology, Patchy alopecia, Slow-growing hair, Brittle hair, Abnorma... ORPHA:573
Pancreatic Lipase Deficiency
Steatorrhea, Hypocholesterolemia OMIM:614338
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Onychogryposis of fingernail, Alopecia, Ridged fingernail, Fingernail dysplasia, Sparse hair ORPHA:2251
Ectodermal Dysplasia-Syndactyly Syndrome 1
Alopecia, Coarse hair, Small nail, Hypoplastic toenails, Sparse eyelashes, Patchy alopecia, Pili ... OMIM:613573
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Alopecia, Toenail dysplasia, Abnormal fingernail morphology, Fingernail dysplasia, Hypoplastic to... ORPHA:2325
Woolly Hair, Autosomal Recessive 3
Fine hair, Trichorrhexis nodosa, Sparse eyelashes, Curly hair, Sparse hair, Sparse scalp hair OMIM:616760
Gelatinous Drop-Like Corneal Dystrophy
Blepharospasm, Conjunctival amyloidosis, Epiphora, Corneal neovascularization, Subepithelial corn... ORPHA:98957
Clouston Syndrome
Alopecia, Sparse eyebrow, Small nail, Fine hair, Alopecia totalis, Brittle hair, Nail dystrophy, ... OMIM:129500
Keratosis Pilaris Atrophicans
Absent eyelashes, Epiphora, Sparse eyebrow OMIM:604093
Glycogen Storage Disease Vi
Hypoglycemia, Hyperlipidemia, Hypercholesterolemia, Hypertriglyceridemia, Hepatomegaly OMIM:232700
Hypergonadotropic Hypogonadism And Partial Alopecia
Alopecia, Streak ovary OMIM:241090
Marsili Syndrome
Lacrimation abnormality, Corneal scarring, Hypohidrosis OMIM:147430
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Alopecia, Decreased response to growth hormone stimulation test, Long eyelashes, Cryptorchidism, ... ORPHA:3363
Pili Torti-Onychodysplasia Syndrome
Alopecia universalis, Alopecia, Sparse body hair, Congenital onychodystrophy, Nail dystrophy, Abs... ORPHA:2890
Palmoplantar Keratoderma And Congenital Alopecia 1
Alopecia, Sparse eyebrow, Leukonychia, Nail dysplasia, Brittle hair, Sparse hair OMIM:104100
Blepharonasofacial Malformation Syndrome
Sparse lateral eyebrow, Telecanthus, Cryptorchidism, Lacrimation abnormality, Epicanthus, Low pos... ORPHA:1252
Herpes Simplex Virus Stromal Keratitis
Corneal perforation, Epiphora, Keratitis, Conjunctival hyperemia, Corneal stromal edema, Herpetif... ORPHA:137599
Alopecia Totalis
Alopecia totalis, Alopecia of scalp, Onycholysis, Trachyonychia, Nail pits, Fragile nails ORPHA:700
Bjornstad Syndrome
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Al... OMIM:262000
Chylomicron Retention Disease
Hypoalbuminemia, Hypotriglyceridemia, Hypocholesterolemia, Decreased LDL cholesterol concentratio... OMIM:246700
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Epidermolysis Bullosa, Junctional 5A, Intermediate
Alopecia of scalp, Nail dystrophy, Onychogryposis, Absent pubic hair, Absent axillary hair, Onych... OMIM:619816
Corneal Dystrophy, Posterior Polymorphous, 1
Epiphora, Band keratopathy, Abnormal corneal endothelium morphology, Ectopia pupillae, Thinning o... OMIM:122000
Vernal Keratoconjunctivitis
Keratoconus, Epiphora, Abnormal cornea morphology, Allergic conjunctivitis, Corneal neovasculariz... ORPHA:70476
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Hypocholesterolemia, Splenomegaly OMIM:610539
Ichthyosis With Alopecia, Eclabium, Ectropion, And Impaired Intellectual Development
Alopecia OMIM:242510
Focal Facial Dermal Dysplasia Type Iii
Highly arched eyebrow, Sparse lateral eyebrow, Downslanted palpebral fissures, Lacrimation abnorm... ORPHA:1807
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Ectopia pupillae, Uveal ectropion, Astigmatism, Abnormal Descemet me... ORPHA:98973
Palmoplantar Keratoderma And Congenital Alopecia 2
Alopecia totalis, Nail dystrophy, Nail dysplasia OMIM:212360
Schöpf-Schulz-Passarge Syndrome
Alopecia, Sparse hair, Ovarian neoplasm, Aplasia/Hypoplasia of the eyebrow ORPHA:50944
Hypotrichosis 7
Abnormal sweat gland morphology, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse axill... OMIM:604379
Pseudoprogeria Syndrome
Alopecia, Sparse eyebrow, Absent eyelashes, Absent eyebrow, Sparse hair ORPHA:2985
Nasopalpebral Lipoma-Coloboma Syndrome
Epiphora, Sparse eyebrow, Ectopic lacrimal punctum, Telecanthus, Lower eyelid coloboma, Absent la... OMIM:167730
Dacryocystitis-Osteopoikilosis Syndrome
Lacrimation abnormality, Dacryocystitis ORPHA:1562
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Nail dysplasia, Alopecia, Nail dystrophy ORPHA:79397
Flynn-Aird Syndrome
Alopecia, Alopecia of scalp OMIM:136300
Ectodermal Dysplasia 9, Hair/Nail Type
Abnormal sweat gland morphology, Abnormal sebaceous gland morphology, Atrichia, Absent hair, Nail... OMIM:614931
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Alopecia, Hypopigmentation of hair ORPHA:1067
Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome
Lacrimation abnormality, Hypohidrosis ORPHA:1484
Hyperlipoproteinemia, Type Ii, And Deafness
Corneal arcus, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Abnormal sweat gland morphology, Alopecia, Absent eyelashes, Absent eyebrow, Hydrocele testis, Ab... OMIM:607823
Alopecia-Intellectual Disability Syndrome
Alopecia, Aplasia/Hypoplasia of the eyebrow, Sparse scalp hair, Sparse body hair ORPHA:2850
Maturity-Onset Diabetes Of The Young, Type 10
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis OMIM:613370
Waardenburg Syndrome Type 1
White hair, Premature graying of hair, Abnormal hair morphology, Telecanthus, Thick eyebrow, Whit... ORPHA:894
Fibrodysplasia Ossificans Progressiva
Alopecia ORPHA:337
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Hypotrichosis 12
Abnormal sweat gland morphology, Sparse pubic hair, Dry hair, Sparse or absent eyelashes, Sparse ... OMIM:615885
Sunct Syndrome
Epiphora, Increased tear production, Conjunctival hyperemia, Ptosis, Hyperhidrosis, Palpebral ede... ORPHA:57145
Erythrokeratodermia Variabilis
Alopecia, Abnormal hair morphology, Generalized hirsutism, Abnormal testis morphology, Abnormalit... ORPHA:317
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Sparse eyebrow, Hypertrophic cardiomyopathy, Hypocholesterolemia, Developmental cataract, Brittle... OMIM:618810
Lacrimal Duct Defect
Epiphora, Lacrimal duct atresia, Dacryocystocele, Conjunctivitis, Dacryocystitis OMIM:149700
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Nail dysplasia, Alopecia, Sparse eyebrow, Sparse eyelashes OMIM:615704
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration OMIM:604765
Zinc Deficiency, Transient Neonatal
Alopecia OMIM:608118
Keratoderma Hereditarium Mutilans
Alopecia, Abnormality of the nail, Abnormal toenail morphology ORPHA:494
Hydroa Vacciniforme
Epiphora, Keratitis ORPHA:330058
Hypotrichosis 13
Abnormal sweat gland morphology, Sparse hair, Woolly hair, Sparse eyelashes OMIM:615896
Intellectual Developmental Syndrome With Alopecia, Contractures, And Dwarfism
Alopecia OMIM:203550
Epidermolysis Bullosa, Junctional 1A, Intermediate
Patchy alopecia, Nail dystrophy, Fragile nails OMIM:226650
Alacrima, Congenital, Autosomal Dominant
Alacrima, Lacrimal gland hypoplasia, Lacrimal punctal atresia, Punctate corneal epithelial erosio... OMIM:103420
Idiopathic Trachyonychia
Toenail dysplasia, Fingernail dysplasia, Ridged nail, Nail dystrophy, Patchy alopecia, Circumungu... ORPHA:79153
Alopecia-Intellectual Disability Syndrome 4
Alopecia, Bilateral cryptorchidism OMIM:618840
Isolated Congenital Alacrima
Alacrima, Keratitis, Lacrimal gland hypoplasia, Lacrimal punctal atresia, Distichiasis, Ptosis, C... ORPHA:91416
Alpha-Heavy Chain Disease
Alopecia ORPHA:100025
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased LDL cholesterol concentra... OMIM:615558
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Alopecia, Sparse eyebrow, Nail dystrophy, Sparse eyelashes, Nail dysplasia, Scarring alopecia of ... OMIM:612843
Nasopalpebral Lipoma-Coloboma Syndrome
Cataract, Epiphora, Sparse eyebrow, Hamartoma of the orbital region, Lacrimal punctal atresia, Te... ORPHA:2399
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Alopecia totalis, Nail dystrophy ORPHA:1366
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Sparse eyebrow, Congenital alopecia totalis, Alopecia of scalp, Absent pubic hair, Absent axillar... ORPHA:2269
Nasolacrimal Duct Cyst
Epiphora, Chronic irritative conjunctivitis, Dacryocystocele, Corneal astigmatism, Narrow palpebr... ORPHA:141083
Alopecia Universalis
Alopecia universalis, Absent eyelashes, Patchy alopecia, Absent eyebrow, Abnormality of the nail ORPHA:701
Nicolaides-Baraitser Syndrome
Highly arched eyebrow, Alopecia, Long eyelashes, Curly eyelashes, Cryptorchidism, Abnormal hair p... ORPHA:3051
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Alopecia, Sparse body hair, Absent eyelashes, Absent eyebrow, Hydrocele testis, Sparse scalp hair ORPHA:69735
Paroxysmal Extreme Pain Disorder
Lacrimation abnormality OMIM:167400
Hereditary Bullous Dystrophy, Macular Type
Alopecia, Atrichia, Decreased testicular size, Nail dystrophy, Cryptorchidism, Congenital abnorma... ORPHA:1867
Trichotillomania
Alopecia OMIM:613229
Pigmented Nodular Adrenocortical Disease, Primary, 4
Alopecia, Increased circulating cortisol level, Primary hypercortisolism, Adrenal hyperplasia, Hi... OMIM:615830
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Alopecia, Yellow nails, Sparse lateral eyebrow, Ridged nail, Nail dystrophy, Onycholysis OMIM:614564
Squalene Synthase Deficiency
Hypocholesterolemia, Abnormality of hair pigmentation, Bicuspid aortic valve, Decreased LDL chole... OMIM:618156
Neuropathy, Hereditary Sensory And Autonomic, Type Viii
Corneal scarring, Decreased lacrimation, Corneal ulceration, Hypohidrosis OMIM:616488
Ichthyosis, Congenital, Autosomal Recessive 1
Nail dysplasia, Alopecia, Sparse hair, Nail dystrophy OMIM:242300
Lattice Corneal Dystrophy Type I
Abnormal cornea morphology, Corneal scarring, Astigmatism, Subepithelial corneal opacities, Recur... ORPHA:98964
Cronkhite-Canada Syndrome
Alopecia, Dystrophic toenail, Sparse body hair, Abnormal fingernail morphology, Hypoplastic toena... ORPHA:2930
Potocki-Lupski Syndrome
Hypocholesterolemia, Atrial septal defect, Patent foramen ovale OMIM:610883
Bile Acid Synthesis Defect, Congenital, 1
Hypocholesterolemia, Splenomegaly, Hepatomegaly, Steatorrhea, Conjugated hyperbilirubinemia OMIM:607765
Zellweger-Like Syndrome Without Peroxisomal Anomalies
Alopecia, Brittle hair ORPHA:50812
Hypomelanosis Of Ito
Alopecia OMIM:300337
Paroxysmal Hemicrania
Conjunctival hyperemia, Palpebral edema, Epiphora, Ptosis ORPHA:157835
Hereditary Mucoepithelial Dysplasia
Alopecia, Sparse hair, Fine hair ORPHA:1839
Peroxisome Biogenesis Disorder 3B
Steatorrhea, Elevated circulating phytanic acid concentration, Hypocholesterolemia, Hepatomegaly OMIM:266510
Lichen Planopilaris
Abnormal fingernail morphology, Alopecia, Onycholysis ORPHA:525
Classic Mycosis Fungoides
Alopecia, Abnormality of the nail ORPHA:2584
Diabetes Mellitus, Permanent Neonatal, 4
Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level, Elevated hemoglobin A1c, Diabet... OMIM:618858
Systemic Lupus Erythematosus 17
Alopecia OMIM:301080
Lipoid Proteinosis Of Urbach And Wiethe
Patchy alopecia OMIM:247100
Rhizomelic Chondrodysplasia Punctata
Alopecia, Sparse body hair ORPHA:177
Oculocerebrocutaneous Syndrome
Alopecia, Cryptorchidism OMIM:164180
Congenital Disorder Of Glycosylation, Type Il
Hypoalbuminemia, Hypocholesterolemia, Splenomegaly, Atrial septal defect, Hepatomegaly, Pericardi... OMIM:608776
Waardenburg Syndrome
Premature graying of hair, Abnormal eyebrow morphology, Telecanthus, White forelock, Heterochromi... ORPHA:3440
Chondroectodermal Dysplasia With Night Blindness
Abnormal hair morphology, Epiphora, Hyperhidrosis, Nail dystrophy ORPHA:319195
Autoimmune Polyendocrinopathy Type 1
Alopecia, Increased circulating cortisol level, Abnormal fingernail morphology, Adrenal hyperplas... ORPHA:3453
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Alopecia, Coarse hair, Nail dystrophy, Abnormality of the anterior pituitary, Brittle hair, Poste... ORPHA:75389
Congenital Ichthyosiform Erythroderma
Alopecia, Abnormality of the nail ORPHA:79394
Maturity-Onset Diabetes Of The Young, Type 13
Maturity-onset diabetes of the young, Hyperglycemia, Reduced C-peptide level, Maternal diabetes, ... OMIM:616329
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Hemifacial Atrophy, Progressive
Patchy alopecia, Poliosis OMIM:141300
Satoyoshi Syndrome
Alopecia universalis, Alopecia OMIM:600705
Adult Syndrome
Alopecia, Toenail dysplasia, Absent nipple, Fine hair, Breast hypoplasia, Fingernail dysplasia, H... ORPHA:978
Localized Junctional Epidermolysis Bullosa
Sparse pubic hair, Dystrophic toenail, Atrophic, patchy alopecia, Nail dystrophy, Sparse axillary... ORPHA:251393
Anterior Segment Dysgenesis 8
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro... OMIM:617319
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Small pituitary gland, Alopecia OMIM:612079
Exfoliation Syndrome
Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Pigment depositio... OMIM:177650
Immunodeficiency, Common Variable, 12, With Autoimmunity
Alopecia OMIM:616576
Alacrima, Congenital, Autosomal Recessive
Punctate corneal epithelial erosions, Alacrima OMIM:601549
Autoimmune Polyendocrinopathy Type 2
Hypoparathyroidism, Alopecia ORPHA:3143
Diabetes Mellitus, Transient Neonatal, 3
Hyperglycemia, Transient neonatal diabetes mellitus, Reduced C-peptide level, Maternal diabetes, ... OMIM:610582
Tangier Disease
Coronary artery stenosis, Hypocholesterolemia, Hepatosplenomegaly, Nail dystrophy, Left ventricul... ORPHA:31150
Olmsted Syndrome, X-Linked
Alopecia totalis, Subungual hyperkeratosis OMIM:300918
Rhizomelic Chondrodysplasia Punctata, Type 1
Alopecia OMIM:215100
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal guttata, Corneal degeneration, Descemet Membrane Folds, Corneal stromal edema, Corneal dy... OMIM:136800
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Abnormal heart morphology, Hyperglycemia, Transient neonata... ORPHA:99886
Dyskeratosis Congenita, Autosomal Recessive 6
Alopecia, Sparse hair, Nail dystrophy OMIM:616353
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Lacrimation abnormality ORPHA:1135
Bathing Suit Ichthyosis
Alopecia, Sparse hair, Nail dystrophy ORPHA:100976
Sabinas Brittle Hair Syndrome
Dry hair, Nail dystrophy, Nail dysplasia, Brittle hair, Sparse hair OMIM:211390
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Alopecia ORPHA:88630
Lipodystrophy, Familial Partial, Type 3
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II... OMIM:604367
Bleeding Disorder, Platelet-Type, 21
Alopecia OMIM:617443
Olmsted Syndrome 2
Alopecia universalis, Sparse hair, Woolly hair OMIM:619208
Diabetes Mellitus, Permanent Neonatal, 1
Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level, Elevated hemoglobin A1c, Diabet... OMIM:606176
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Hypoketotic hypoglycemia, Hyperammonemia, Elevated circulating creatine k... OMIM:600649
Renpenning Syndrome
Thin eyebrow, Alopecia, Abnormal hairshaft morphology, Decreased testicular size ORPHA:3242
Hepatic Lipase Deficiency
Corneal arcus, Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:614025
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Alopecia, Alopecia of scalp, Nail dystrophy, Multinodular goiter OMIM:618373
Menkes Disease
Alopecia, Sparse hair, Brittle hair OMIM:309400
Classic Progressive Supranuclear Palsy Syndrome
Blepharospasm, Axial dystonia, Tremor, Conjunctival hyperemia, Dystonia, Decreased lacrimation ORPHA:240071
Centrifugal Lipodystrophy
Alopecia ORPHA:90156
Corneal Dystrophy, Reis-Bucklers Type
Corneal opacity, Palpebral edema, Opacification of the corneal stroma, Corneal dystrophy, Corneal... OMIM:608470
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Hyperconvex fingernails, Alopecia, Hypoplastic fingernail ORPHA:257
Epidermolysis Bullosa, Lethal Acantholytic
Alopecia universalis, Anonychia, Absent fingernail, Alopecia totalis OMIM:609638
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine k... OMIM:618838
Keratoderma Hereditarium Mutilans With Ichthyosis
Alopecia, Nail dystrophy, Onychogryposis ORPHA:79395
Chanarin-Dorfman Syndrome
Alopecia OMIM:275630
Olmsted Syndrome 1
Alopecia universalis, Subungual hyperkeratosis, Nail dystrophy, Nail dysplasia, Sparse hair OMIM:614594
Abnormal Hair, Joint Laxity, And Developmental Delay
Alopecia, Sparse lateral eyebrow, Small nail, Trichorrhexis nodosa, Pili torti, Fragile nails OMIM:261990
Abdominal Obesity-Metabolic Syndrome 3
Coronary artery stenosis, Hyperglycemia, Increased LDL cholesterol concentration, Type II diabete... OMIM:615812
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Alopecia, Supernumerary nipple ORPHA:3224
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Cardiomegaly ORPHA:88643
Ichthyosis, Congenital, Autosomal Recessive 2
Abnormal hair morphology, Alopecia, Small nail, Thin nail OMIM:242100
Diabetes, Deafness, Developmental Delay, And Short Stature Syndrome
Hypopituitarism, Alopecia OMIM:620651
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Highly arched eyebrow, Alopecia, Sparse lateral eyebrow, Dystrophic toenail, Nail dystrophy, Dyst... ORPHA:3253
Hypotrichosis 14
Sparse pubic hair, Sparse body hair, Absent axillary hair, Sparse hair, Short eyelashes OMIM:618275
Type 1 Diabetes Mellitus
Hyperglycemia, Decreased level of 1,5 anhydroglucitol in serum, Diabetes mellitus OMIM:222100
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Sparse hair, Keratoconus, Alopecia, Conjunctivitis, Decreased lacrimation OMIM:242150
Eec Syndrome
Sparse eyebrow, Coarse hair, Keratitis, Xerostomia, Fine hair, Decreased response to growth hormo... ORPHA:1896
Adams-Oliver Syndrome 2
Alopecia, Small nail, Low anterior hairline OMIM:614219
Hutchinson-Gilford Progeria Syndrome
Alopecia OMIM:176670
Johnson Neuroectodermal Syndrome
Absent eyelashes, Alopecia, Sparse hair, Absent eyebrow ORPHA:2316
Intellectual Developmental Disorder, X-Linked, Syndromic 17
Abnormality of adrenal physiology, Alacrima, Anisocoria OMIM:300858
Long-Olsen-Distelmaier Syndrome
Cataract, Microspherophakia, Dilated cardiomyopathy, Secundum atrial septal defect, Hypoglycemia,... OMIM:620609
Lipodystrophy, Familial Partial, Type 1
Hepatomegaly, Hyperglycemia, Insulin-resistant diabetes mellitus, Hypertriglyceridemia OMIM:608600
Flynn-Aird Syndrome
Alopecia ORPHA:2047
Hypercholesterolemia, Familial, 3
Corneal arcus, Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration OMIM:603776
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Alopecia, Sparse eyebrow, Nail dystrophy, Sparse eyelashes, Woolly hair OMIM:605676
Pachyonychia Congenita
Onychogryposis of fingernail, Alopecia, Onychogryposis of toenails, Fingernail dysplasia, Nail dy... ORPHA:2309
Rapp-Hodgkin Syndrome
Sparse hair, Sparse eyebrow, Small nail, Decreased number of sweat glands, Supernumerary nipple, ... OMIM:129400
Mandibuloacral Dysplasia
Increased circulating free fatty acid level, Alopecia, Hypoplastic fingernail, Hypercholesterolem... ORPHA:2457
Hyperferritinemia With Or Without Cataract
Cataract, Nuclear cataract, Increased circulating ferritin concentration, Pulverulent cataract, A... OMIM:600886
Incontinentia Pigmenti
Alopecia, Coarse hair, Fine hair, Supernumerary nipple, Breast aplasia, Breast hypoplasia, Ridged... OMIM:308300
Mucoepithelial Dysplasia, Hereditary
Sparse hair, Cataract, Epiphora, Alopecia, Coarse hair, Corneal neovascularization, Nail dystroph... OMIM:158310
Bresek Syndrome
Decreased testicular size, Alopecia, Cryptorchidism ORPHA:85284
Frontonasal Dysplasia 2
Short palpebral fissure, Sparse eyebrow, Decreased lacrimation, Fine hair, Bilateral cryptorchidi... OMIM:613451
Persistent Hyperplastic Primary Vitreous
Cataract, Microcornea, Epiphora, Persistent pupillary membrane, Leukocoria, Developmental catarac... ORPHA:91495
Congenital Disorder Of Glycosylation, Type Im
Alopecia, Increased circulating free fatty acid level, Sparse eyebrow, Sparse eyelashes OMIM:610768
Keutel Syndrome
Alopecia ORPHA:85202
Acrocraniofacial Dysostosis
Lacrimation abnormality, Telecanthus, Ptosis, Downslanted palpebral fissures ORPHA:949
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Alopecia, Cryptorchidism, Fine hair ORPHA:228390
Satoyoshi Syndrome
Alopecia universalis, Abnormal hair morphology, Abnormality of the ovary, Sparse or absent eyelas... ORPHA:3130
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Alopecia OMIM:600785
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Alopecia, Sparse eyebrow, Sparse eyelashes, Thick hair, Sparse hair, Bile duct proliferation OMIM:607626
Mandibulofacial Dysostosis With Alopecia
Alopecia, Sparse eyelashes OMIM:616367
Lacrimoauriculodentodigital Syndrome 2
Alacrima, Lacrimal duct aplasia, Lacrimal duct atresia, Absent lacrimal punctum, Conjunctivitis OMIM:620192
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Insulin-resistant diabetes mellitus, Hypertrichosis, Hypoglycemia, Hy... OMIM:262190
Sézary Syndrome
Alopecia, Nail dystrophy ORPHA:3162
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Highly arched eyebrow, Elevated circulating luteinizing hormone level, Supernumerary lacrimal pun... ORPHA:572333
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal guttata, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corneal... OMIM:613270
Abetalipoproteinemia
Hypoalbuminemia, Hypotriglyceridemia, Hypocholesterolemia, Abnormal circulating apolipoprotein co... ORPHA:14
Amoebic Keratitis
Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ... ORPHA:67043
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Abnormal fingernail morphology, Alopecia, Sparse hair ORPHA:659
Generalized Eruptive Keratoacanthoma
Ectropion, Conjunctivitis, Abnormal cornea morphology, Keratoconjunctivitis sicca ORPHA:411777
Hypercholesterolemia, Familial, 2
Corneal arcus, Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Decreased testicular size, Patchy alopecia, Cryptorchidism ORPHA:85279
Maternal Uniparental Disomy Of Chromosome 4
Type I diabetes mellitus, Hypocholesterolemia, Abetalipoproteinemia, Elevated circulating creatin... ORPHA:96180
Kury-Isidor Syndrome
Alopecia, Hypertrichosis OMIM:619762
Johanson-Blizzard Syndrome
Alopecia, Exocrine pancreatic insufficiency, Absent lacrimal punctum, Lacrimation abnormality, Ab... ORPHA:2315
Autoimmune Lymphoproliferative Syndrome, Type Iii
Alopecia OMIM:615559
Branchiootorenal Syndrome 1
Lacrimal duct aplasia, Euthyroid goiter, Lacrimation abnormality, Lacrimal duct stenosis, Gustato... OMIM:113650
Holocarboxylase Synthetase Deficiency
Alopecia ORPHA:79242
Monosomy 18P
Low posterior hairline, Alopecia ORPHA:1598
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Alopecia, Sparse eyelashes, Absent eyelashes, Absent eyebrow, Hydrocele testis, Sparse scalp hair OMIM:137940
Chylomicron Retention Disease
Steatorrhea, Hypocholesterolemia ORPHA:71
Kaufman Oculocerebrofacial Syndrome
Microcornea, Sparse eyebrow, Hypocholesterolemia, Astigmatism, Ventricular septal defect, Atrial ... OMIM:244450
Anterior Segment Dysgenesis 7
Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen... OMIM:269400
Polyendocrine-Polyneuropathy Syndrome
Decreased testicular size, Alopecia, Anterior pituitary hypoplasia ORPHA:453533
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Alopecia, Pituitary adenoma, Increased circulating cortisol level, Hyperaldosteronism, Macronodul... ORPHA:189427
Gomez-Lopez-Hernandez Syndrome
Decreased response to growth hormone stimulation test, Alopecia OMIM:601853
Mandibuloacral Dysplasia With Type A Lipodystrophy
Alopecia, Breast aplasia, Abnormal eyebrow morphology, Hyperlipidemia, Absent eyelashes ORPHA:90153
Lacrimoauriculodentodigital Syndrome 3
Alacrima, Lacrimal duct aplasia, Xerostomia, Absent lacrimal punctum, Absent eyelashes, Epicanthus OMIM:620193
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Small pituitary gland, Sparse pubic hair, Alopecia, Sparse eyebrow, Abnormal eyebrow morphology, ... ORPHA:2232
Bartsocas-Papas Syndrome
Alopecia totalis, Sparse or absent eyelashes, Hypoplastic toenails, Aplasia/Hypoplasia of the eye... ORPHA:1234
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy
Alopecia OMIM:600142
Dyskeratosis Congenita, Autosomal Recessive 1
Epiphora, Pterygium, Nail dystrophy, Sparse eyelashes, Nasolacrimal duct obstruction, Sparse scal... OMIM:224230
Hemochromatosis, Type 1
Testicular atrophy, Alopecia OMIM:235200
Mandibuloacral Dysplasia With Type B Lipodystrophy
Alopecia, Sparse hair, Hyperlipidemia, Brittle hair OMIM:608612
Ane Syndrome
Alopecia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, P... ORPHA:157954
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Alopecia OMIM:618282
Fibrodysplasia Ossificans Progressiva
Alopecia OMIM:135100
Alg12-Cdg
Hypoalbuminemia, Recurrent hypoglycemia, Biventricular hypertrophy, Hypocholesterolemia, Muscular... ORPHA:79324
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Lacrimation abnormality, Epicanthus, Low posterior hairline ORPHA:2916
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Nail dysplasia, Alopecia, Nail dystrophy OMIM:175500
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Hyperglycemia OMIM:609812
Mandibuloacral Dysplasia With Type B Lipodystrophy
Abnormal hair morphology, Alopecia, Hyperlipidemia, Nail dystrophy ORPHA:90154
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Cardiomyopathy, Steatorrhea, Hypocholesterolemia, Hepatomegaly, Pericardial effu... OMIM:212065
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Alacrima, Ankyloblepharon, Supernumerary nipple, Sparse body hair, Lacrimal duct atresia, Nail dy... OMIM:106260
Immunodeficiency, Common Variable, 10
Decreased response to growth hormone stimulation test, Alopecia totalis, Trachyonychia OMIM:615577
Corneal Endothelial Dystrophy
Corneal dystrophy, Opacification of the corneal stroma, Abnormal Descemet membrane morphology, In... OMIM:217700
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Alopecia, Sparse eyebrow, Small nail, Bilateral cryptorchidism, Hypoplastic toenails, Sparse eyel... ORPHA:544488
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Alopecia, Small nail, Cryptorchidism, Absent eyelashes, Absent eyebrow ORPHA:166035
Familial Dysautonomia
Alacrima, Abnormal pupil morphology, Heterochromia iridis, Hypohidrosis, Hyperhidrosis, Corneal o... ORPHA:1764
Adrenoleukodystrophy
Alopecia OMIM:300100
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Alacrima, White forelock, Cryptorchidism, Heterochromia iridis, Hypohidrosis, White eyebrow, Whit... OMIM:609136
Omenn Syndrome
Alopecia, Aplasia/Hypoplasia of the eyebrow ORPHA:39041
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Nail dysplasia, Alopecia, Nail dystrophy OMIM:226600
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Alopecia, Sparse hair, Abnormal toenail morphology ORPHA:1005
Atopic Keratoconjunctivitis
Keratitis, Allergic conjunctivitis, Corneal scarring, Corneal neovascularization, Chemosis, Conju... ORPHA:163934
Cockayne Syndrome Type 1
Cataract, Cryptorchidism, Tremor, Hypohidrosis, Conjunctivitis, Decreased lacrimation ORPHA:90321
Cardiomyopathy, Familial Hypertrophic, 27
Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, P... OMIM:618052
Acrodermatitis Enteropathica
Alopecia, Ridged fingernail, Abnormal eyebrow morphology, Ridged nail, Abnormality of the nail, P... ORPHA:37
X-Linked Agammaglobulinemia
Alopecia ORPHA:47
Brittle Cornea Syndrome 1
Keratoconus, Abnormal cornea morphology, Epicanthus, Decreased corneal thickness, Red hair, Kerat... OMIM:229200
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Alopecia universalis, Alopecia, Cholelithiasis, Nail dystrophy, Hypoparathyroidism OMIM:240300
Oculocerebrocutaneous Syndrome
Abnormal fingernail morphology, Alopecia, Cryptorchidism ORPHA:1647
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Premature graying of hair, Abnormal eyebrow morphology, Telecanthus, Heterochromia iridis, Hypohi... ORPHA:163746
Dyskeratosis Congenita, Autosomal Dominant 1
Alopecia, Premature graying of hair, Ridged nail, Nail dystrophy, Sparse hair, Nail pits OMIM:127550
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Alopecia, Decreased response to growth hormone stimulation test, Alopecia totalis, Nail dystrophy... ORPHA:293978
Lethal Acantholytic Erosive Disorder
Congenital alopecia totalis, Absent hair, Absent toenail, Absent eyelashes, Absent eyebrow, Absen... ORPHA:158687
Short Syndrome
Alopecia, Sparse hair ORPHA:3163
Dyskeratosis Congenita, Digenic
Decreased testicular size, Alopecia, Nail dystrophy, Sparse eyelashes OMIM:620040
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Alopecia ORPHA:412057
Insulin-Resistance Syndrome Type B
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... ORPHA:2298
Hypocalcemic Vitamin D-Resistant Rickets
Hyperparathyroidism, Alopecia ORPHA:93160
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
High anterior hairline, Alacrima, Adrenal insufficiency, Ptosis, Hypohidrosis, Anisocoria OMIM:615510
Mody
Abnormal oral glucose tolerance, Glycosuria, Insulin-resistant diabetes mellitus, Hyperglycemia, ... ORPHA:552
Adams-Oliver Syndrome
Alopecia, Hypoplastic fingernail, Aplastic/hypoplastic toenail, Sparse hair, Absent fingernail ORPHA:974
Dubowitz Syndrome
Sparse lateral eyebrow, Hypoplasia of the iris, Megalocornea, Hypocholesterolemia, Iris coloboma,... OMIM:223370
Lacrimoauriculodentodigital Syndrome
Epiphora, Abnormal lacrimal duct morphology, Lacrimal duct aplasia, Xerostomia, Hypoplasia of the... ORPHA:2363
Macs Syndrome
Alopecia, Sparse hair, Sparse eyebrow, Cryptorchidism OMIM:613075
Achalasia-Addisonianism-Alacrima Syndrome
Alacrima, Adrenal insufficiency, Decreased circulating cortisol level, Decreased circulating aldo... OMIM:231550
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Alopecia OMIM:304790
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Alopecia ORPHA:169154
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Alopecia, Polycystic ovaries, Hirsutism, Decreased circulating cortisol level, Testicular adrenal... ORPHA:90795
Lmna-Related Cardiocutaneous Progeria Syndrome
Alopecia universalis, Premature graying of hair, Absent eyelashes, Absent eyebrow, Hypercholester... ORPHA:363618
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Recurrent corneal erosions, Alacrima, Corneal ulceration, Episodic hyperhidrosis OMIM:223900
Dyskeratosis Congenita, Autosomal Dominant 3
Alopecia, Fine hair, Premature graying of hair, Nail dystrophy, Cryptorchidism, Nail dysplasia OMIM:613990
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Conjunctivitis, Periorbital dermoid cyst, Alacrima, Lacrimal duct stenosis OMIM:615560
Hyperostosis Cranialis Interna
Epiphora OMIM:144755
Holocarboxylase Synthetase Deficiency
Alopecia OMIM:253270
Intellectual Disability-Alacrima-Achalasia Syndrome
Alacrima, Anisocoria ORPHA:289483
Gapo Syndrome
Alopecia, Early balding, Sparse eyebrow, Sparse eyelashes ORPHA:2067
Neutral Lipid Storage Disease With Ichthyosis
Alopecia, Hypertriglyceridemia ORPHA:98907
Mogs-Cdg
Alopecia, Fair hair, Long eyelashes, Hirsutism, Hydrocele testis ORPHA:79330
Gapo Syndrome
Alopecia, Sparse eyebrow, Breast hypoplasia, Sparse eyelashes, Nail dysplasia, Hypoplastic nipple... OMIM:230740
Rothmund-Thomson Syndrome, Type 2
Alopecia, Sparse eyebrow, Annular pancreas, Premature graying of hair, Nail dystrophy, Cryptorchi... OMIM:268400
Immunodeficiency 7
Patchy alopecia OMIM:615387
Omenn Syndrome
Hypoplasia of the thymus, Alopecia OMIM:603554
Secondary Intestinal Lymphangiectasia
Hypoalbuminemia, Secondary hyperaldosteronism, Reduced circulating transferrin concentration, Hyp... ORPHA:90363
Incontinentia Pigmenti
Alopecia, Ridged fingernail, Dystrophic toenail, Supernumerary nipple, Abnormal hair morphology, ... ORPHA:464
Schimmelpenning-Feuerstein-Mims Syndrome
Alopecia OMIM:163200
H Syndrome
Alopecia, Hypertrichosis, Abnormal eyebrow morphology, Decreased testicular size, Hypertriglyceri... ORPHA:168569
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Decreased lacrimation, Bilateral ptosis, Corneal scarring, Action tremor, Corneal neovascularizat... ORPHA:404454
Woodhouse-Sakati Syndrome
Alopecia, Fine hair, Decreased testicular size, Hyperlipidemia, Sparse hair OMIM:241080
Autoimmune Polyendocrine Syndrome, Type Ii
Steatorrhea, Alopecia OMIM:269200
Distal Deletion 19P
Alopecia, Thick eyebrow ORPHA:96129
Cockayne Syndrome B
Sparse hair, Microcornea, Dry hair, Decreased lacrimation, Hypoplasia of the iris, Abnormal hair ... OMIM:133540
Oculocerebrorenal Syndrome Of Lowe
Lentiglobus, Cataract, Hyperparathyroidism, Fine hair, Hyperaldosteronism, Abnormal pupil morphol... ORPHA:534
X-Linked Dominant Chondrodysplasia Punctata
Sparse eyebrow, Coarse hair, Sparse eyelashes, Patchy alopecia, Scarring alopecia of scalp, Abnor... ORPHA:35173
Progeria-Short Stature-Pigmented Nevi Syndrome
Low posterior hairline, Alopecia, Neoplasm of the pancreas ORPHA:2959
Carcinoid Syndrome
Epiphora ORPHA:100093
Limb-Mammary Syndrome
Alopecia, Sparse eyebrow, Absent nipple, Breast aplasia, Aplasia of the ovary, Nail dysplasia, Hy... ORPHA:69085
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Patchy alopecia, Sparse hair OMIM:617763
Cockayne Syndrome
Lentiglobus, Cataract, Band keratopathy, Abnormal cornea morphology, Alacrima, Fine hair, Dry hai... ORPHA:191
Anterior Segment Dysgenesis 6
Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morphology, Corneal neova... OMIM:617315
Encephalocraniocutaneous Lipomatosis
Alopecia, Cryptorchidism OMIM:613001
Stuve-Wiedemann Syndrome 1
Short palpebral fissure, Decreased lacrimation, Opacification of the corneal stroma, Hyperhidrosi... OMIM:601559
Dyskeratosis Congenita
Alopecia, White hair, Premature graying of hair, Abnormal fingernail morphology, Abnormal eyebrow... ORPHA:1775
Celiac Disease, Susceptibility To, 1
Steatorrhea, Alopecia OMIM:212750
Hallermann-Streiff Syndrome
Alopecia, Sparse eyebrow, Sparse body hair, Cryptorchidism, Sparse eyelashes, Abnormality of hair... ORPHA:2108
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4
Hooded upper eyelid, Alacrima, Telecanthus, Astigmatism, Ptosis OMIM:618548
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Alopecia totalis, Cholelithiasis OMIM:618775
Mandibuloacral Dysplasia With Type A Lipodystrophy
Alopecia, Hyperlipidemia, Hypercholesterolemia, Sparse scalp hair, Onychogryposis OMIM:248370
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Alopecia OMIM:210210
Cone-Rod Dystrophy 10
Epiphora OMIM:610283
Hyperuricemia, Infantile, With Abnormal Behavior And Normal Hypoxanthine Guanine Phosphoribosyltransferase
Alacrima OMIM:240000
Dyskeratosis Congenita, X-Linked
Cataract, Epiphora, Alopecia, Premature graying of hair, Pterygium, Decreased testicular size, Cr... OMIM:305000
Nestor-Guillermo Progeria Syndrome
Alopecia, Sparse eyebrow, Nail dystrophy, Sparse eyelashes, Sparse scalp hair OMIM:614008
Lipodystrophy, Familial Partial, Type 2
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... OMIM:151660
Congenital Disorder Of Deglycosylation 1
Alacrima, Anhidrosis, Action tremor, Ptosis, Hyperhidrosis, Corneal opacity, Athetosis, Corneal u... OMIM:615273
Pediatric Systemic Lupus Erythematosus
Alopecia ORPHA:93552
Biotinidase Deficiency
Alopecia OMIM:253260
Vitamin D-Dependent Rickets, Type 2A
Alopecia universalis, Secondary hyperparathyroidism OMIM:277440
Helix Syndrome
Hyperparathyroidism, Alacrima, Xerostomia, Hypohidrosis, Anhidrosis OMIM:617671
Cone-Rod Dystrophy 8
Epiphora OMIM:605549
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Alopecia universalis, Patchy alopecia OMIM:606367
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Cataract, Alacrima, Tremor, Dystonia, Athetosis OMIM:615356
Cockayne Syndrome A
Sparse hair, Cataract, Dry hair, Decreased lacrimation, Cryptorchidism, Tremor, Anhidrosis, Opaci... OMIM:216400
Autosomal Dominant Hypocalcemia
Abnormal fingernail morphology, Alopecia, Abnormality of the nail ORPHA:428
Mixed Connective Tissue Disease
Alopecia ORPHA:809
Porphyria, Congenital Erythropoietic
Alopecia, Cholelithiasis, Hypertrichosis, Loss of eyelashes, Absent eyebrow OMIM:263700
Linear Nevus Sebaceus Syndrome
Alopecia, Adenoma sebaceum ORPHA:2612
Neuropathy, Hereditary Sensory And Autonomic, Type I, With Cough And Gastroesophageal Reflux
Alacrima OMIM:608088
Smith-Lemli-Opitz Syndrome
Hypoalbuminemia, Cataract, Hypertrophic cardiomyopathy, Hypocholesterolemia, Elevated circulating... OMIM:270400
Giant Cell Arteritis
Alopecia ORPHA:397
Trisomy 8P
Annular pancreas, Astigmatism, Cryptorchidism, Upslanted palpebral fissure, Heterochromia iridis,... ORPHA:264450
Lacrimoauriculodentodigital Syndrome 1
Corneal perforation, Alacrima, Xerostomia, Lacrimal gland hypoplasia, Downslanted palpebral fissu... OMIM:149730
Leigh Syndrome
Frontal hirsutism, Alopecia, Hypertrichosis ORPHA:506
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Corneal scarring, Alacrima, Hyperhidrosis OMIM:614653
Charge Syndrome
Highly arched eyebrow, Cryptorchidism, Eyelid coloboma, Lacrimation abnormality, Epicanthus, Ptos... ORPHA:138
Biotinidase Deficiency
Alopecia ORPHA:79241
Glucocorticoid Deficiency 2
Decreased circulating cortisol level, Alacrima, Bilateral cryptorchidism OMIM:607398
Classical-Like Ehlers-Danlos Syndrome Type 2
Alopecia, Cryptorchidism, Hypertriglyceridemia ORPHA:536532
Williams Syndrome
Cataract, Cholelithiasis, Megalocornea, Aplasia/Hypoplasia of the iris, Tremor, Cryptorchidism, L... ORPHA:904
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Epicanthus, Chalazion OMIM:613355
Deeah Syndrome
Short palpebral fissure, Alacrima, Decreased response to growth hormone stimulation test, Panhypo... OMIM:619004
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Alopecia, Nail dystrophy, Onychogryposis ORPHA:79396
Colchicine Poisoning
Alopecia ORPHA:31824
Bartsocas-Papas Syndrome 1
Alopecia, Small nail, Bilateral cryptorchidism, Alopecia totalis, Absent eyelashes, Absent eyebro... OMIM:263650
Woodhouse-Sakati Syndrome
Alopecia, Decreased response to growth hormone stimulation test, Decreased testicular size, Strea... ORPHA:3464
Stüve-Wiedemann Syndrome
Lacrimation abnormality, Hypothyroidism, Hypohidrosis, Hyperhidrosis, Ectopic thyroid ORPHA:3206
Orofaciodigital Syndrome I
Alopecia, Dry hair, Pancreatic cysts, Ovarian cyst, Sparse hair OMIM:311200
Graft Versus Host Disease
Decreased lacrimation ORPHA:39812
Alstrom Syndrome
Decreased response to growth hormone stimulation test, Alopecia, Hypertriglyceridemia, Multinodul... OMIM:203800
Atypical Werner Syndrome
Abnormal hair whorl, Alopecia, Premature graying of hair, Abnormal hair morphology, Sparse body h... ORPHA:79474
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Cholelithiasis, Decreased testicular size, Thick eyebrow, Cryptorchidism, Patchy alopecia OMIM:300534
Autoimmune Polyendocrinopathy Type 4
Alopecia, Anterior pituitary dysgenesis ORPHA:227990
Rothmund-Thomson Syndrome
Sparse eyebrow, Small nail, Alopecia totalis, Sparse eyelashes, Nail dysplasia, Sparse hair, Abno... ORPHA:2909
Focal Dermal Hypoplasia