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Gene: Rab38 MGI:1919683

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
RAB38, member RAS oncogene family
Synonyms:
2310011F14Rik

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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.

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Rab38 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 Rab38 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Discoid Fibromas, Familial Multiple
Abnormal hair morphology OMIM:190340
Hairy Nose Tip
Abnormal hair morphology OMIM:139630
Ringed Hair
Abnormal hair morphology OMIM:180600
Albinism-Microcephaly-Digital Anomalies Syndrome
Albinism OMIM:203340
Griscelli Syndrome, Type 1
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... OMIM:214450
Albinism, Oculocutaneous, Type Iii
Red hair, Partial albinism, Albinism OMIM:203290
Book Syndrome
Premature graying of hair OMIM:112300
Griscelli Syndrome Type 3
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation ORPHA:79478
Waardenburg Syndrome, Type 2F
Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White forelock, Cafe-a... OMIM:619947
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Ringed Hair Disease
Abnormal hair pattern, Fine hair ORPHA:169
Tietz Syndrome
Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e... ORPHA:42665
Pili Bifurcati
Abnormal hair morphology, Abnormality of hair texture ORPHA:720
Emphysema, Hereditary Pulmonary
Emphysema, Chronic bronchitis OMIM:130700
Waardenburg Syndrome, Type 2B
Premature graying of hair, White forelock, Heterochromia iridis OMIM:600193
Dilution, Pigmentary
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation OMIM:126070
Waardenburg Syndrome Type 2
Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, White forelock, ... ORPHA:895
Tietz Albinism-Deafness Syndrome
White eyelashes, White eyebrow, Blue irides, Generalized hypopigmentation, Heterochromia iridis OMIM:103500
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Recurrent bronchopulmonary infections, Hypopigmentation of hair, Partial albinism ORPHA:90023
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypopigmentation of hair, Chorioretinal hypopigmentation, Hypopigm... OMIM:619165
Albinism, Oculocutaneous, Type Iv
Hypopigmentation of hair, Blue irides, Albinism OMIM:606574
Waardenburg Syndrome, Type 4B
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... OMIM:613265
Bilateral Acute Depigmentation Of The Iris
Iris pigment dispersion, Recurrent upper respiratory tract infections, Abnormal corneal endotheli... ORPHA:69736
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 4
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Premature graying ... OMIM:616371
Waardenburg Syndrome, Type 2A
White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,... OMIM:193510
Ermine Phenotype
White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo OMIM:227010
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism OMIM:606952
Alopecia, Congenital
Sparse hair, Alopecia OMIM:300042
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig... OMIM:203200
Tremor Of Intention, Ataxia, And Lipofuscinosis
Premature graying of hair OMIM:190200
Waardenburg Syndrome, Type 4A
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... OMIM:277580
Alopecia-Intellectual Disability Syndrome 1
Alopecia, Alopecia universalis OMIM:203650
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Congenital Lobar Emphysema
Emphysema ORPHA:1928
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... ORPHA:170
Microcephaly-Albinism-Digital Anomalies Syndrome
Hypopigmentation of the skin, Iris hypopigmentation ORPHA:2513
Mucus Inspissation Of Respiratory Tract
Recurrent respiratory infections, Atelectasis, Bronchiectasis OMIM:253240
Griscelli Syndrome Type 1
Premature graying of hair, White hair, Partial albinism, Iris hypopigmentation ORPHA:79476
Piebald Trait-Neurologic Defects Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Hypopigmented... ORPHA:2885
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Abnormality of skin pigmentation, Cataract OMIM:300719
Congenital Disorder Of Glycosylation, Type I/Iix
Abnormality of skin pigmentation OMIM:212067
Methionine Malabsorption Syndrome
Tachypnea, White hair, Blue irides OMIM:250900
Oculocutaneous Albinism Type 3
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener... ORPHA:79433
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Macular hyperpigmented dermopathy, White forelock ORPHA:2779
Oculocutaneous Albinism Type 1
White eyelashes, Iris hypopigmentation, White eyebrow, Blue irides, Iris transillumination defect... ORPHA:352731
Angioma, Tufted
Abnormality of skin pigmentation OMIM:607859
Dyschromatosis Universalis Hereditaria
Hypermelanotic macule, Spotty hypopigmentation, Hypopigmented skin patches, Multiple cafe-au-lait... ORPHA:241
Progressive Hemifacial Atrophy
Irregular hyperpigmentation, Heterochromia iridis ORPHA:1214
Birt-Hogg-Dubé Syndrome
Abnormality of retinal pigmentation, Emphysema, Pneumothorax, Pulmonary sequestration ORPHA:122
Hypotrichosis 8
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... OMIM:278150
Hidrotic Ectodermal Dysplasia
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... ORPHA:189
Woolly Hair Nevus
Curly hair, Patchy hypopigmentation of hair, Congenital posterior occipital alopecia, Fine hair, ... ORPHA:79414
Prader-Willi Syndrome Due To Imprinting Mutation
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:177910
Oliver-Mcfarlane Syndrome
Alopecia, Central heterochromia, Long eyebrows, Pigmentary retinopathy, Long eyelashes, Sparse hair OMIM:275400
Neuroectodermal Melanolysosomal Disease
Recurrent respiratory infections, Hypopigmentation of hair, Generalized hyperpigmentation, Premat... ORPHA:33445
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... OMIM:615872
Oculocutaneous Albinism Type 4
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin... ORPHA:79435
Intellectual Developmental Disorder, Autosomal Recessive 50
Heterochromia iridis OMIM:616460
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ... OMIM:615294
Hermansky-Pudlak Syndrome 4
Epistaxis, Albinism, Ocular albinism, Restrictive ventilatory defect, Pulmonary fibrosis OMIM:614073
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Premature graying of hair, Heterochromia iridis ORPHA:66633
Phenylketonuria
Generalized hypopigmentation, Fair hair, Blue irides, Cataract OMIM:261600
White Forelock With Malformations
White forelock, Poliosis OMIM:277740
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Atelecta... ORPHA:70589
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... OMIM:619466
Adult-Onset Foveomacular Vitelliform Dystrophy
Choroideremia, Iris hypopigmentation ORPHA:99000
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome
Iris hypopigmentation ORPHA:85332
Oculocutaneous Albinism Type 2
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab... ORPHA:79432
Woolly Hair, Autosomal Recessive 3
Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa OMIM:616760
Horner Syndrome, Congenital
Heterochromia iridis OMIM:143000
Oculocutaneous Albinism Type 6
Abnormal iris pigmentation ORPHA:370097
Free Sialic Acid Storage Disease
Abnormality of skin pigmentation, Recurrent respiratory infections, Iris hypopigmentation ORPHA:834
Albinism-Deafness Syndrome
Partial albinism, Piebaldism, Hypopigmented skin patches, Irregular hyperpigmentation, Heterochro... ORPHA:998
Waardenburg Syndrome, Type 3
Partial albinism, Synophrys, Blue irides, Hypopigmented skin patches, Premature graying of hair, ... OMIM:148820
Uncombable Hair Syndrome 3
Uncombable hair, Curly hair, Brittle hair, Pili canaliculi OMIM:617252
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:411515
Griscelli Syndrome, Type 2
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... OMIM:607624
Megalocornea
Iridodonesis, Cataract, Deep anterior chamber, Mosaic corneal dystrophy, Iris transillumination d... OMIM:309300
Idiopathic Bronchiectasis
Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Bronchiect... ORPHA:60033
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent pneumonia, Bronchiectasis, Ciliary dyskinesia, Chronic rhinitis, Cough, Re... OMIM:616726
Ermine Phenotype
Hypopigmentation of hair, Ocular albinism, Hypopigmented skin patches, Astigmatism, Irregular hyp... ORPHA:999
Yemenite Deaf-Blind Hypopigmentation Syndrome
Patchy hypo- and hyperpigmentation, Microcornea, Numerous pigmented freckles, White forelock, Cho... OMIM:601706
Attenuated Chédiak-Higashi Syndrome
Generalized hypopigmentation, Epistaxis, Ocular albinism, Recurrent respiratory infections ORPHA:352723
Hermansky-Pudlak Syndrome 1
Hypopigmentation of hair, Freckles in sun-exposed areas, Epistaxis, Albinism, Ocular albinism, Me... OMIM:203300
Piebald Trait
Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr... OMIM:172800
Allergic Bronchopulmonary Aspergillosis
Abnormal fingernail morphology, Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmona... ORPHA:1164
Albinism, Oculocutaneous, Type Vii
Iris transillumination defect, Albinism OMIM:615179
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Atelectasis, Chronic sinusitis, Recurrent bronchitis OMIM:300455
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Respiratory tract infection, Hypersensitivity pneumonitis, Nonproductive cough, Chronic pulmonary... ORPHA:79127
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Hypopigmentation of hair, Hypopigmented skin patches, Microcornea, Anterior synechiae of the ante... ORPHA:3214
Tonne-Kalscheuer Syndrome
Concave nail, Blue irides, Fine hair, Pulmonary hypoplasia, Small nail OMIM:300978
Edinburgh Malformation Syndrome
Brushfield spots, Synophrys, Respiratory insufficiency, Low posterior hairline, Generalized hirsu... ORPHA:1895
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... OMIM:617319
Oculocutaneous Albinism Type 1B
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck... ORPHA:79434
Anterior Segment Dysgenesis 4
Hypoplastic iris stroma, Iris hypopigmentation OMIM:137600
Hermansky-Pudlak Syndrome 11
Epistaxis, Albinism, Ocular albinism, Melanocytic nevus, Iris transillumination defect, Fair hair OMIM:619172
Usher Syndrome Type 3
Cataract, Astigmatism, Iris hypopigmentation ORPHA:231183
Hermansky-Pudlak Syndrome
Hypopigmentation of hair, Cataract, Partial albinism, Epistaxis, Dyspnea, Ocular albinism, Melano... ORPHA:79430
Piebaldism
Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Hypopigmented sk... ORPHA:2884
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Neonatal respiratory distress, Atelectasis, Dyspnea, Tachypnea, Pulmonary e... OMIM:267450
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Recurrent bronchopulmonary infections, Hypopigmentation of the skin OMIM:610798
Uncombable Hair Syndrome 1
Uncombable hair, Dry hair, Pili canaliculi OMIM:191480
Waardenburg Syndrome, Type 2E
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Ocular albinism, Prematu... OMIM:611584
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia, Onychogryposis of toenails, Alopecia of scalp, Hypopigmentation of the skin, Sparse bod... OMIM:617294
Waardenburg Syndrome Type 1
Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormal hair morphology, Synophrys, Wh... ORPHA:894
X-Linked Recessive Ocular Albinism
Abnormal pupil morphology, Ocular albinism, Giant melanosomes in melanocytes, Astigmatism, Freckl... ORPHA:54
3-Methylglutaconic Aciduria Type 4
Cataract, Iris hypopigmentation ORPHA:67048
Oculocerebral Syndrome With Hypopigmentation
Silver-gray hair, Hypopigmentation of the skin OMIM:257800
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Generalized hyperpigmentation ORPHA:1355
Bare Lymphocyte Syndrome, Type I
Nasal polyposis, Ectopia lentis, Bronchiectasis, Bronchiolitis, Emphysema, Chronic sinusitis, Rec... OMIM:604571
Alpha-1-Antitrypsin Deficiency
Chronic bronchitis, Dyspnea, Panacinar emphysema, Chronic pulmonary obstruction, Wheezing, Bronch... OMIM:613490
Griscelli Syndrome Type 2
Premature graying of hair, Hypopigmentation of hair, Partial albinism, Iris hypopigmentation ORPHA:79477
Erythrokeratoderma ''En Cocardes''
Abnormality of skin pigmentation ORPHA:315
Oculocutaneous Albinism Type 1A
Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigmentation of the skin, Iri... ORPHA:79431
Usher Syndrome Type 1
Cataract, Iris hypopigmentation ORPHA:231169
Familial Nasal Acilia
Respiratory distress, Atelectasis, Dyspnea, Recurrent upper respiratory tract infections, Bronchi... ORPHA:922
Homocarnosinosis
Abnormality of skin pigmentation, Abnormality of retinal pigmentation OMIM:236130
Piebald Trait With Neurologic Defects
White forelock, Absent pigmentation of the ventral chest OMIM:172850
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Recurrent respiratory infections, Frontal balding, Early balding, Blue irides, Cafe-au-lait spot ORPHA:3041
Waardenburg Syndrome Type 3
Tracheomalacia, Atelectasis, White hair, Thick eyebrow ORPHA:896
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Alopecia, Hypermelanotic macule, Mixed hypo- and hyperpigmentation of the skin, Reticulated skin ... ORPHA:79397
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia
Sparse scalp hair, Sparse eyebrow, Abnormality of skin pigmentation, Nail dysplasia, Ciliary dysk... OMIM:225050
Recurrent Respiratory Papillomatosis
Respiratory distress, Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract in... ORPHA:60032
Limited Cutaneous Systemic Sclerosis
Abnormality of skin pigmentation, Pulmonary arterial hypertension, Hypopigmented skin patches, Pu... ORPHA:220402
Netherton Syndrome
Recurrent respiratory infections, Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Abnormal h... ORPHA:634
Asbestos Intoxication
Reduced vital capacity, Reduced forced vital capacity, Atelectasis, Pleural thickening, Nonproduc... ORPHA:2302
Griscelli Syndrome
Abnormal eyebrow morphology, Abnormal eyelash morphology, Silver-gray hair, White hair, Hypopigme... ORPHA:381
Albinism, Oculocutaneous, Type Ia
Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb... OMIM:203100
Sarcoidosis, Susceptibility To, 2
Dyspnea, Pneumothorax, Bronchiectasis, Abnormal pulmonary interstitial morphology, Uveitis, Hypox... OMIM:612387
Albinism-Deafness Syndrome
Piebaldism, Patchy hypo- and hyperpigmentation, Partial albinism, Albinism OMIM:300700
Riboflavin Transporter Deficiency
Respiratory insufficiency, Iris hypopigmentation ORPHA:97229
Hermansky-Pudlak Syndrome 8
Epistaxis, Albinism, Silver-gray hair, Myopic astigmatism, Ocular albinism, Blue irides, Iris tra... OMIM:614077
Elejalde Neuroectodermal Melanolysosomal Syndrome
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... OMIM:256710
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Hypopigmentation of hair, Cataract, Corneal opacity, Alopecia, Aplasia/Hypoplasia of the iris, Pe... ORPHA:1067
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Premature graying of hair, Nail dystrophy, Emphysema, Pulmonary fibrosis OMIM:620365
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Abnormality of retinal pigmentation, Synophrys, Heterochromia iridis ORPHA:1390
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism ORPHA:2786
Acrodysostosis 2 With Or Without Hormone Resistance
Red hair, Fair hair, Blue irides OMIM:614613
Albinism, Oculocutaneous, Type Vi
Generalized hypopigmentation, Fair hair OMIM:113750
Hereditary Bullous Dystrophy, Macular Type
Alopecia, Cataract, Corneal opacity, Pneumonia, Congenital abnormal hair pattern, Spotty hypopigm... ORPHA:1867
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema OMIM:614100
Tracheobronchopathia Osteochondroplastica
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... ORPHA:3348
Proteus-Like Syndrome
Cataract, Abnormal pupil morphology, Limbal dermoid, Bronchogenic cyst, Irregular hyperpigmentati... ORPHA:2969
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:98795
Hypertrichosis Lanuginosa Congenita
Abnormality of skin pigmentation, Generalized hirsutism, Thick eyebrow ORPHA:2222
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m... OMIM:225200
Hermansky-Pudlak Syndrome 6
Epistaxis, Albinism, Recurrent upper respiratory tract infections, Ocular albinism, Hypopigmentat... OMIM:614075
Waardenburg Syndrome, Type 4C
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... OMIM:613266
Hermansky-Pudlak Syndrome 5
Iris transillumination defect, Ocular albinism, Epistaxis, Albinism OMIM:614074
Hermansky-Pudlak Syndrome 10
Recurrent respiratory infections, Apnea, Albinism, Ocular albinism, Abnormal pulmonary interstiti... OMIM:617050
Alpha-1-Antitrypsin Deficiency
Emphysema ORPHA:60
Intellectual Developmental Disorder, Autosomal Recessive 38
Blue irides OMIM:615516
Waardenburg Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, Synophrys, Hypopigmented skin patches, Abn... ORPHA:3440
Waardenburg Syndrome, Type 1
White eyelashes, Partial albinism, White eyebrow, Synophrys, Blue irides, Premature graying of ha... OMIM:193500
Oculocerebral Hypopigmentation Syndrome, Preus Type
Cataract, White hair, Ocular albinism, Generalized hypopigmentation, Iris hypopigmentation ORPHA:2720
Cutis Laxa-Marfanoid Syndrome
Emphysema ORPHA:171719
Angelman Syndrome Due To A Point Mutation
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:411511
Epidermodysplasia Verruciformis, Susceptibility To, 4
Emphysema OMIM:618307
Spondylo-Ocular Syndrome
Abnormal eyebrow morphology, Cataract, Aplasia/Hypoplasia of the lens, Low posterior hairline, Ir... ORPHA:85194
Acute Interstitial Pneumonia
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Crackles, Atelect... ORPHA:79126
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Reticular hyperpigmentation, Premature graying of hair, Restrictive ventilatory defect, Nail dyst... OMIM:619767
Infant Acute Respiratory Distress Syndrome
Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemia, Respira... ORPHA:70587
Meconium Aspiration Syndrome
Respiratory distress, Atelectasis, Neonatal asphyxia, Pneumothorax, Wheezing, Hypoxemia, Aspirati... ORPHA:70588
Hermansky-Pudlak Syndrome 3
Spontaneous, recurrent epistaxis, Hypopigmentation of hair, Hypopigmentation of the skin, Albinism OMIM:614072
Waardenburg-Shah Syndrome
Abnormality of retinal pigmentation, Hypopigmentation of hair, Abnormal eyebrow morphology, White... ORPHA:897
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Microcornea, Generalized hypopigmentation, Cataract, Iris transillumination defect OMIM:617306
Noonan Syndrome 13
Highly arched eyebrow, Blue irides, Low posterior hairline, Multiple lentigines, Cafe-au-lait spo... OMIM:619087
Idiopathic Chronic Eosinophilic Pneumonia
Crackles, Atelectasis, Hypersensitivity pneumonitis, Nonproductive cough, Dyspnea, Wheezing, Asth... ORPHA:2902
Hyperbilirubinemia, Rotor Type
Abnormality of skin pigmentation OMIM:237450
Frontofacionasal Dysplasia
Cataract, Brushfield spots, Microcornea, Limbal dermoid, Absent inner eyelashes, Iris coloboma, A... ORPHA:1791
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ... OMIM:610921
Chediak-Higashi Syndrome
Spontaneous, recurrent epistaxis, Hypopigmentation of hair, Silver-gray hair, Ocular albinism, Gi... OMIM:214500
Acrofrontofacionasal Dysostosis
Brushfield spots, Anonychia, Hypopigmented skin patches, Aplasia/Hypoplasia of the eyebrow ORPHA:1784
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Crackles, ... OMIM:610978
Iridocorneal Endothelial Syndrome
Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ... ORPHA:64734
Obesity And Hypopigmentation
Red hair OMIM:620195
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Emphysema OMIM:210050
Intermediate Generalized Junctional Epidermolysis Bullosa
Scarring alopecia of scalp, Abnormality of skin pigmentation, Nail dystrophy, Anonychia, Sparse b... ORPHA:79402
Hypocomplementemic Urticarial Vasculitis
Dyspnea, Emphysema, Uveitis, Restrictive ventilatory defect, Conjunctivitis, Irregular hyperpigme... ORPHA:36412
Ataxia-Telangiectasia
Premature graying of hair, Recurrent respiratory infections, Hypopigmentation of hair, Multiple c... ORPHA:100
Ectodermal Dysplasia-Blindness Syndrome
Recurrent respiratory infections, Cataract, Abnormal fingernail morphology, Corneal dystrophy, Sc... ORPHA:1806
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Progressive hyperpigmentation, Hypermelanotic macule, Hypopigmented skin patches, Multiple lentig... OMIM:145250
Vogt-Koyanagi-Harada Disease
Abnormal eyebrow morphology, Sparse scalp hair, Poliosis, Abnormal eyelash morphology, Hypopigmen... ORPHA:3437
Prader-Willi Syndrome
Recurrent respiratory infections, Hypopigmentation of hair, Hypoventilation, Frontal upsweep of h... OMIM:176270
Angelman Syndrome
Fair hair, Hypopigmentation of the skin, Blue irides OMIM:105830
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:98794
Familial Dysautonomia
Recurrent respiratory infections, Corneal opacity, Abnormal pleura morphology, Abnormal pupil mor... ORPHA:1764
Familial Cold Autoinflammatory Syndrome 3
Recurrent sinopulmonary infections, Asthma, Allergic rhinitis, Vitiligo OMIM:614468
Immunodeficiency 54
Recurrent respiratory infections, Respiratory failure, Respiratory insufficiency, Hyperpigmentati... OMIM:609981
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Central apnea, Recurrent respiratory infections, Hypopigmentation of hair, Hypopigmentation of th... ORPHA:98754
Bronchogenic Cyst
Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Atelectasis, Dyspnea, Cough, Bronchogenic ... ORPHA:2357
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Bronchiolitis, Atelectasis, Pulmonary fibrosis, Exertional dyspnea ORPHA:254361
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Central apnea, Recurrent respiratory infections, Hypopigmentation of hair, Hypopigmentation of th... ORPHA:98793
Clouston Syndrome
Alopecia, Brittle hair, Cataract, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Sparse e... OMIM:129500
C1Q Deficiency 2
Atelectasis, Recurrent lower respiratory tract infections, Bronchiectasis OMIM:620321
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Central apnea, Recurrent respiratory infections, Hypopigmentation of hair, Hypopigmentation of th... ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Central apnea, Recurrent respiratory infections, Hypopigmentation of hair, Hypopigmentation of th... ORPHA:177901
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cataract, Apnea, Brushfield spots, Pigmentary retinopathy, Opacification of the corneal stroma OMIM:214110
Prader-Willi Syndrome Due To Translocation
Respiratory distress, Recurrent respiratory infections, Hypopigmentation of hair, Stellate iris, ... ORPHA:177907
Wyburn-Mason Syndrome
Epistaxis, Iris hypopigmentation ORPHA:53719
Zellweger Syndrome
Cataract, Abnormal chorioretinal morphology, Corneal opacity, Brushfield spots, Respiratory insuf... ORPHA:912
Chédiak-Higashi Syndrome
Abnormality of retinal pigmentation, Hypopigmentation of hair, Recurrent respiratory infections, ... ORPHA:167
Congenital Microcoria
Developmental cataract, Corneal stromal edema, Iris transillumination defect, Nuclear cataract, A... ORPHA:566
Hypophosphatasia
Emphysema, Respiratory insufficiency ORPHA:436
Hermansky-Pudlak Syndrome 2
Aberrant melanosome maturation, Albinism, Recurrent pneumonia, Ocular albinism, Pulmonary fibrosi... OMIM:608233
Ciliary Dyskinesia, Primary, 1
Nasal polyposis, Pneumonia, Atelectasis, Absent outer dynein arms, Bronchiectasis, Immotile cilia... OMIM:244400
Peroxisome Biogenesis Disorder 1A (Zellweger)
Neonatal respiratory distress, Cataract, Brushfield spots, Pigmentary retinopathy, Pulmonary hypo... OMIM:214100
Usher Syndrome Type 2
Cataract, Iris hypopigmentation ORPHA:231178
Albinism, Ocular, Type I
Giant melanosomes in melanocytes, Ocular albinism OMIM:300500
Aortic Aneurysm, Familial Thoracic 4
Abnormal iris pigmentation OMIM:132900
Fanconi Renotubular Syndrome 5
Decreased DLCO, Emphysema, Pulmonary fibrosis, Lung adenocarcinoma OMIM:618913
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of skin pigmentation, Abnormality of retinal pigmentation, Cataract, Chorioretinal dy... OMIM:251270
Oculocerebral Hypopigmentation Syndrome, Cross Type
Hypopigmentation of hair, Cataract, Corneal opacity, Ocular albinism, Choroideremia, Iris hypopig... ORPHA:2719
Hermansky-Pudlak Syndrome 9
Hypopigmentation of the skin, Ocular albinism OMIM:614171
Hermansky-Pudlak Syndrome 7
Ocular albinism, Epistaxis, Albinism OMIM:614076
Obesity Due To Prohormone Convertase I Deficiency
Red hair, Hypopigmentation of the skin ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Red hair, Hypopigmentation of the skin ORPHA:71526
Noonan Syndrome 4
Sparse eyebrow, Curly hair, High anterior hairline, Blue irides OMIM:610733
Deafness-Hypogonadism Syndrome
Heterochromia iridis ORPHA:90646
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Neonatal respiratory distress, Nasal polyposis, Peribronchova... ORPHA:244
Angelman Syndrome
Keratoconus, Astigmatism, Fair hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:72
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Recurrent sinopulmonary infections, Vitiligo OMIM:619846
Fuchs Heterochromic Iridocyclitis
Anterior chamber inflammatory cells, Iris atrophy, Cataract, Anisocoria, Posterior synechiae of t... ORPHA:263479
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Abnormality of skin pigmentation, Abnormal fingernail morphology, Sparse hair, Sparse body hair ORPHA:1810
Lymphangioleiomyomatosis
Recurrent respiratory infections, Ungual fibroma, Atelectasis, Dyspnea, Pneumothorax, Abnormality... ORPHA:538
Late-Onset Retinal Degeneration
Iris atrophy, Choroidal neovascularization, Abnormal anterior eye segment morphology, Chorioretin... ORPHA:67042
Cronkhite-Canada Syndrome
Alopecia, Generalized hyperpigmentation, Cataract, Abnormal fingernail morphology, Hypoplastic to... ORPHA:2930
Darier Disease
Hypermelanotic macule, Abnormal hair morphology, Abnormality of skin pigmentation, Abnormality of... ORPHA:218
Juvenile Xanthogranuloma
Multiple cafe-au-lait spots, Iritis, Uveitis, Asymmetry of iris pigmentation ORPHA:158000
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Recurrent respiratory infections, Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Spar... OMIM:129900
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Abnormality of skin pigmentation, Pulmonary embolism ORPHA:745
Duane Retraction Syndrome
Central heterochromia, Patchy hypopigmentation of hair, Abnormal pupil morphology, Hypopigmented ... ORPHA:233
Palmoplantar Keratoderma And Congenital Alopecia 1
Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair, Hyperpigmentati... OMIM:104100
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Crackles, Atelectasis, Dyspnea, Asthma, Wheezing, Abnormal pulmonary interstitial morphology, Bro... OMIM:620233
Dyskeratosis Congenita, Autosomal Dominant 3
Alopecia, Reticulated skin pigmentation, Fine hair, Premature graying of hair, Pulmonary fibrosis... OMIM:613990
Nail-Patella Syndrome
Abnormal iris pigmentation, Antecubital pterygium, Primary congenital glaucoma, Fingernail dyspla... ORPHA:2614
Autosomal Dominant Hyper-Ige Syndrome
Recurrent respiratory infections, Abnormal hair morphology, Atelectasis, Paronychia, Cough, Dystr... ORPHA:2314
Whim Syndrome
Sinusitis, Pneumonia, Respiratory tract infection, Atelectasis, Recurrent upper respiratory tract... ORPHA:51636
Lmna-Related Cardiocutaneous Progeria Syndrome
Absent eyebrow, Absent eyelashes, Premature graying of hair, Sparse hair, Emphysema, Abnormality ... ORPHA:363618
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hypopigmentation of hair, Respiratory failure ORPHA:70472
Classic Phenylketonuria
Hypopigmentation of hair, Cataract, Hypopigmentation of the skin ORPHA:79254
Sturge-Weber Syndrome
Conjunctival telangiectasia, Corneal dystrophy, Pulmonary embolism, Abnormal choroid morphology, ... ORPHA:3205
Gaucher Disease, Type I
Epistaxis, Dyspnea, Abnormal pulmonary interstitial morphology, Pulmonary arterial hypertension, ... OMIM:230800
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Hypopigmentation of hair, Generalized hirsutism, Fine hair ORPHA:2221
8Q21.11 Microdeletion Syndrome
Cataract, Corneal opacity, Sclerocornea, Iris hypopigmentation ORPHA:284160
Koolen-De Vries Syndrome
Cataract, Fair hair, Abnormality of hair texture, Iris hypopigmentation OMIM:610443
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent bronchopulmonary infections, Emphysema, Recurrent pneumonia, Bronchiectasis OMIM:242700
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Abnormal eyebrow morphology, Hypopigmentation of hair, Hypopigmented skin patches, Premature gray... ORPHA:163746
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hypopigmentation of hair, Cafe-au-lait spot, Hypopigmentation of the skin OMIM:618541
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Abnormality of skin pigmentation, Pulmonary embolism ORPHA:743
Dyskeratosis Congenita, Autosomal Dominant 2
Reticulated skin pigmentation, Premature graying of hair, White forelock, Pulmonary fibrosis, Nai... OMIM:613989
Dyskeratosis Congenita, Autosomal Recessive 1
Sparse scalp hair, Sparse eyelashes, Pterygium of nails, Reticular hyperpigmentation, Pulmonary f... OMIM:224230
Immunodeficiency 89 And Autoimmunity
Pulmonary bulla, Pleural thickening, Asthma, Bronchiectasis, Recurrent lower respiratory tract in... OMIM:619632
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Atelectasis OMIM:300219
Hypoadrenocorticism, Familial
Abnormality of skin pigmentation, Apnea OMIM:240200
Hatipoglu Immunodeficiency Syndrome
Hyperpigmented/hypopigmented macules, Asthma, Premature graying of hair, Fair hair, Recurrent bro... OMIM:620331
Carney Complex, Type 1
Multiple lentigines, Red hair, Freckling, Profuse pigmented skin lesions, Hirsutism OMIM:160980
Congenital Tracheomalacia
Apnea, Tracheobronchomalacia, Cough, Emphysema, Neonatal respiratory distress, Intercostal retrac... ORPHA:95430
Muenke Syndrome
Hypopigmentation of hair, Hypopigmented skin patches, Hypermelanotic macule ORPHA:53271
Ocular Albinism With Late-Onset Sensorineural Deafness
Ocular albinism ORPHA:1000
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Sparse pubic hair, Blu... OMIM:604292
Meier-Gorlin Syndrome 4
Emphysema, Breast hypoplasia OMIM:613804
Brittle Cornea Syndrome 1
Keratoconus, Keratoglobus, Abnormal cornea morphology, Decreased corneal thickness, Red hair OMIM:229200
Hypohidrotic Ectodermal Dysplasia
Abnormal hair quantity, Sinusitis, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Keratoco... ORPHA:238468
Acrodysostosis 1 With Or Without Hormone Resistance
Blue irides, Melanocytic nevus OMIM:101800
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
White eyelashes, White eyebrow, Hypopigmented skin patches, White forelock, Heterochromia iridis OMIM:609136
Terminal Osseous Dysplasia
Abnormality of skin pigmentation, Iris coloboma OMIM:300244
Oculocutaneous Albinism Type 5
Ocular albinism ORPHA:370091
Trisomy 8P
Recurrent upper respiratory tract infections, Abnormal lung lobation, Low posterior hairline, Ast... ORPHA:264450
Ciliary Dyskinesia, Primary, 20
Recurrent respiratory infections, Productive cough, Atelectasis, Pulmonary artery stenosis, Recur... OMIM:615067
Neurofibromatosis Type 1
Abnormal hair quantity, Abnormality of retinal pigmentation, Generalized hyperpigmentation, Corne... ORPHA:636
Nail-Patella Syndrome
Keratoconus, Ridged nail, Cataract, Concave nail, Antecubital pterygium, Microcornea, Microphakia... OMIM:161200
Self-Improving Dystrophic Epidermolysis Bullosa
Abnormality of skin pigmentation, Abnormality of the subungual region, Anonychia, Nail dystrophy ORPHA:79411
Peroxisome Biogenesis Disorder 5A (Zellweger)
Cataract, Brushfield spots, Pigmentary retinopathy, Hypoplastic nipples, Opacification of the cor... OMIM:614866
Baraitser-Winter Cerebrofrontofacial Syndrome
Highly arched eyebrow, Low posterior hairline, Microcornea, Heterochromia iridis, Iris coloboma ORPHA:2995
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Abnormality of skin pigmentation ORPHA:457260
Large Congenital Melanocytic Nevus
Abnormality of skin pigmentation, Congenital giant melanocytic nevus, Hypopigmented skin patches,... ORPHA:626
Vici Syndrome
Recurrent respiratory infections, Hypopigmentation of hair, Cataract, Albinism, Ocular albinism, ... OMIM:242840
Neuroocular Syndrome
Cataract, Brittle hair, Highly arched eyebrow, Brushfield spots, Synophrys, Lens coloboma, Blue i... OMIM:619539
Knobloch Syndrome 1
Band keratopathy, Chorioretinal atrophy, Developmental cataract, Iris transillumination defect, L... OMIM:267750
Proteus Syndrome
Abnormality of retinal pigmentation, Central heterochromia, Generalized hyperpigmentation, Catara... ORPHA:744
Hennekam-Beemer Syndrome
Generalized hyperpigmentation, Pneumonia, Respiratory insufficiency, Abnormality of skin pigmenta... ORPHA:2135
Dyskeratosis Congenita, Autosomal Recessive 6
Abnormality of skin pigmentation, Alopecia, Sparse hair, Nail dystrophy OMIM:616353
Farber Disease
Respiratory distress, Corneal opacity, Nodular pattern on pulmonary HRCT, Atelectasis, Recurrent ... ORPHA:333
Common Variable Immunodeficiency
Recurrent respiratory infections, Pneumonia, Bronchiectasis, Restrictive ventilatory defect, Emph... ORPHA:1572
Down Syndrome
Brushfield spots, Pulmonary artery stenosis, Partial anomalous pulmonary venous return OMIM:190685
Congenital Disorder Of Glycosylation, Type Iq
Abnormality of skin pigmentation, Cataract, Hypertrichosis OMIM:612379
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Sparse hair, Emphysema, Coarse hair, Thick hair ORPHA:357074
Hoyeraal-Hreidarsson Syndrome
Sparse scalp hair, Generalized hyperpigmentation, Premature graying of hair, Nail dystrophy, Gene... ORPHA:3322
Squalene Synthase Deficiency
Abnormality of hair pigmentation OMIM:618156
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Abnormality of skin pigmentation, Premature graying of hair, Abnormal hair morphology ORPHA:1979
Sarcoidosis, Susceptibility To, 1
Iridocyclitis, Dyspnea, Emphysema, Bronchiectasis, Abnormal pulmonary interstitial morphology, Uv... OMIM:181000
Cutis Laxa, Autosomal Recessive, Type Ia
Recurrent respiratory infections, Emphysema OMIM:219100
Sim1-Related Prader-Willi-Like Syndrome
Recurrent respiratory infections, Hypopigmentation of hair, Chorioretinal hypopigmentation, Hypop... ORPHA:398079
Relapsing Polychondritis
Alopecia, Cataract, Keratitis, Atelectasis, Dyspnea, Uveitis, Conjunctivitis, Cough, Abnormal pat... ORPHA:728
Loeys-Dietz Syndrome 4
Emphysema, Pneumothorax, Flat cornea OMIM:614816
Incontinentia Pigmenti
Alopecia, Cataract, Abnormal chorioretinal morphology, Corneal opacity, Abnormal fingernail morph... ORPHA:464
Incontinentia Pigmenti
Ridged nail, Alopecia, Cataract, Supernumerary nipple, Keratitis, Uveitis, Nail pits, Abnormality... OMIM:308300
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Hypoventilation, Atelectasis, Respiratory insufficiency, Pulmonary arterial hypertension, Respira... ORPHA:258
Familial Cutaneous Collagenoma
Abnormality of skin pigmentation ORPHA:53296
Sarcoidosis
Alopecia, Cataract, Abnormal nasal mucosa morphology, Abnormal pleura morphology, Dyspnea, Abnorm... ORPHA:797
Ellis Van Creveld Syndrome
Abnormal hair quantity, Abnormal fingernail morphology, Hypoplastic toenails, Abnormal hair morph... ORPHA:289
Brittle Cornea Syndrome
Corneal dystrophy, Corneal erosion, Abnormality of hair pigmentation, Corneal scarring, Keratoglo... ORPHA:90354
Cutis Laxa, Autosomal Dominant 1
Dyspnea, Emphysema, Bronchiectasis, Peripheral pulmonary artery stenosis OMIM:123700
Syndromic Diarrhea
Hypopigmentation of hair, Brittle hair, Trichorrhexis nodosa, Woolly hair, Uncombable hair, Gener... ORPHA:84064
Nocardiosis
Respiratory distress, Pneumonia, Productive cough, Keratitis, Nonproductive cough, Dyspnea, Emphy... ORPHA:31204
Focal Dermal Hypoplasia
Alopecia, Corneal opacity, Ectopia lentis, Abnormality of skin pigmentation, Hypoplasia of the ir... ORPHA:2092
De Barsy Syndrome
Recurrent sinopulmonary infections, Cataract, Corneal opacity, Sparse hair, Emphysema ORPHA:2962
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Recurrent respiratory infections, White hair, Fine hair ORPHA:935
Hurler Syndrome
Recurrent respiratory infections, Corneal opacity, Abnormality of skin pigmentation, Rhinitis, Ge... ORPHA:93473
Neonatal Marfan Syndrome
Iridodonesis, Neonatal respiratory distress, Ectopia lentis, Hypoxemia, Emphysema, Megalocornea ORPHA:284979
Dyskeratosis Congenita, Autosomal Recessive 3
Abnormality of skin pigmentation, Nail dystrophy OMIM:613988
Magel2-Related Prader-Willi-Like Syndrome
Recurrent respiratory infections, Hypopigmentation of hair, Chorioretinal hypopigmentation, Hypop... ORPHA:398069
Phace Syndrome
Cataract, Sclerocornea, Lens coloboma, Heterochromia iridis, Iris coloboma ORPHA:42775
Chand Syndrome
Atelectasis, Curly hair, Nail dysplasia ORPHA:1401
Retinoblastoma
Abnormality of retinal pigmentation, Leukocoria, Uveitis, Hypopyon, Heterochromia iridis ORPHA:790
Craniolenticulosutural Dysplasia
Brittle hair, Abnormality of skin pigmentation, Coarse hair, Posterior Y-sutural cataract, Sparse... ORPHA:50814
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Ocular albinism ORPHA:1352
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Red hair OMIM:609734
Cholestasis-Lymphedema Syndrome
Abnormality of skin pigmentation ORPHA:1414
Chronic Graft Versus Host Disease
Alopecia, Dyspnea, Wheezing, Pneumothorax, Bronchiectasis, Abnormality of skin pigmentation, Bron... ORPHA:99921
Mosaic Variegated Aneuploidy Syndrome
Cataract, Corneal opacity, Apnea, Abnormal lung lobation, Abnormality of skin pigmentation, Multi... ORPHA:1052
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Recurrent respiratory infections, Atelectasis, Tachypnea, Respiratory insufficiency, Respiratory ... OMIM:618278
Cohen Syndrome
Abnormality of retinal pigmentation, Chorioretinal dystrophy, Thick hair, Abnormal eyelash morpho... ORPHA:193
Lujo Hemorrhagic Fever
Respiratory distress, Crackles, Atelectasis, Nonproductive cough, Rhinitis ORPHA:319213
Prader-Willi Syndrome
Recurrent respiratory infections, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:739
Autosomal Recessive Cutis Laxa Type 1
Cataract, Pneumothorax, Recurrent pneumonia, Respiratory insufficiency, Emphysema, Peripheral pul... ORPHA:90349
Cutis Laxa, Autosomal Recessive, Type Ic
Atelectasis, Recurrent pneumonia, Pulmonary hypoplasia, Tracheomalacia, Emphysema, Peripheral pul... OMIM:613177
Granulomatous Disease, Chronic, X-Linked
Atelectasis, Pleural effusion, Recurrent pneumonia, Cough OMIM:306400
Williams Syndrome
Recurrent respiratory infections, Flat cornea, Cataract, Corneal opacity, Abnormal fingernail mor... ORPHA:904
Mandibuloacral Dysplasia
Abnormality of skin pigmentation, Alopecia, Sparse hair, Hypoplastic fingernail ORPHA:2457
Koolen-De Vries Syndrome
Hypopigmentation of hair, Cataract, Abnormality of hair texture ORPHA:96169
Williams-Beuren Syndrome
Medial flaring of the eyebrow, Blue irides, Premature graying of hair, Small nail, Peripheral pul... OMIM:194050
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory distress, Repeated pneumothoraces, Atelectasis, Respiratory insufficiency, Microcorne... ORPHA:536467
Short-Rib Thoracic Dysplasia 12
Atelectasis, Hypoplastic nipples, Pulmonary hypoplasia, Respiratory insufficiency OMIM:269860
Oculocerebrorenal Syndrome Of Lowe
Recurrent respiratory infections, Sparse scalp hair, Cataract, Corneal opacity, Chorioretinal dys... ORPHA:534
Ehlers-Danlos Syndrome, Vascular Type
Pulmonary bulla, Keratoconus, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, Repe... OMIM:130050
Meier-Gorlin Syndrome 6
Tracheobronchomalacia, Recurrent respiratory infections, Emphysema OMIM:616835
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Orthopnea, Respiratory tract infection, Atelectasis, Respiratory insufficie... ORPHA:365
Fabry Disease
Conjunctival telangiectasia, Cataract, Corneal opacity, Corneal dystrophy, Dyspnea, Chronic pulmo... ORPHA:324
Degcags Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, Pneumonia, Abnormal eyelash morphology, Sy... OMIM:619488
Sympathetic Ophthalmia
Alopecia, Cataract, Poliosis, Anterior chamber cells, Posterior synechiae of the anterior chamber... ORPHA:79098
Dyskeratosis Congenita, Digenic
Abnormality of skin pigmentation, Alopecia, Sparse eyelashes, Nail dystrophy OMIM:620040
3Q29 Microdeletion Syndrome
Abnormality of skin pigmentation, Pulmonary arterial hypertension, Cataract ORPHA:65286
Marfan Syndrome
Flat cornea, Spontaneous pneumothorax, Lens luxation, Ectopia lentis, Emphysema, Hypoplasia of th... ORPHA:558
Keutel Syndrome
Sinusitis, Recurrent bronchitis, Pulmonary artery hypoplasia, Emphysema, Chronic sinusitis, Perip... OMIM:245150
Meier-Gorlin Syndrome 1
Respiratory distress, Hyperconvex nail, Long eyelashes, Emphysema, Breast hypoplasia OMIM:224690
Zygomycosis
Sinusitis, Epistaxis, Atelectasis, Pneumothorax, Chemosis, Acute infectious pneumonia, Cough, Ple... ORPHA:73263
Gaucher Disease
Corneal opacity, Abnormal pulmonary interstitial morphology, Respiratory insufficiency, Abnormali... ORPHA:355
22Q11.2 Deletion Syndrome
Cataract, Atelectasis, Asthma, Chronic pulmonary obstruction, Abnormal lung lobation, Hypopigment... ORPHA:567
Marfan Syndrome
Cataract, Ectopia lentis, Emphysema, Pneumothorax, Microspherophakia, Hypoplasia of the iris, Ast... OMIM:154700
Smith-Lemli-Opitz Syndrome
Hypopigmentation of hair, Cataract, Sclerocornea, Abnormal eyelash morphology, Abnormal lung loba... ORPHA:818
Rajab Interstitial Lung Disease With Brain Calcifications 1
Tachypnea, Abnormal pulmonary interstitial morphology, Respiratory insufficiency, Respiratory fai... OMIM:613658
Ablepharon Macrostomia Syndrome
Absent eyebrow, Corneal opacity, Abnormal hair pattern, Absent eyelashes, Corneal erosion, Fine h... ORPHA:920
Autosomal Recessive Faciodigitogenital Syndrome
Hypopigmentation of hair, Coarse hair, Widow's peak, Dry hair ORPHA:1974
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Abnormality of retinal pigmentation, Corneal opacity, Chorioretinal dysplas... ORPHA:2556
Cutis Laxa, Autosomal Recessive, Type Ib
Pulmonary artery dilatation, Emphysema, Pulmonary artery aneurysm OMIM:614437
Autosomal Dominant Cutis Laxa
Corneal opacity, Bronchiectasis, Developmental cataract, Bronchiolitis, Emphysema, Peripheral pul... ORPHA:90348
Cystinosis, Nephropathic
Hypopigmentation of hair, Retinal pigment epithelial mottling, Pigmentary retinopathy, Recurrent ... OMIM:219800
Wrinkly Skin Syndrome
Sparse hair, Recurrent sinopulmonary infections, Emphysema ORPHA:2834
Alkaptonuria
Abnormality of skin pigmentation, Irregular hyperpigmentation, Abnormality of the nail ORPHA:56
Menkes Disease
Sparse hair, Woolly hair, Hypopigmentation of hair ORPHA:565
1P36 Deletion Syndrome
Abnormal eyebrow morphology, Cataract, Ocular albinism, Horizontal eyebrow, Generalized hirsutism ORPHA:1606
Digeorge Syndrome
Sclerocornea, Atelectasis, Asthma, Recurrent pneumonia, Chronic pulmonary obstruction, Recurrent ... OMIM:188400
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Curly hair, Unilateral lung agenesis, Sparse eyebrow, Respiratory failure, Emphysema, Broad later... ORPHA:500150
Vascular Ehlers-Danlos Syndrome
Keratoconus, Alopecia, Abnormality of hair texture, Abnormal eyelash morphology, Abnormal pupil m... ORPHA:286
Viss Syndrome
Sparse scalp hair, Alopecia, Dyspnea, Asthma, Pneumothorax, Pulmonary artery aneurysm, Pulmonary ... OMIM:619472

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Rab38

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Rab38.

No publications found that use IMPC mice or data for Rab38.

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MGI Allele Allele Type Produced
Rab38tm372839(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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